# bin/cn_loci.tsv: the copy-number catalog, one row per locus, read by bin/copy_number.py. # It sits in bin/ because bin/ is the only repository folder every container mounts (the bash steps # mount it as /pgp-bin, Nextflow puts it on each task's PATH), as bin/str_intermediate_ranges.tsv. # docs/cn-loci.md explains every column and how to add a locus; tests/test_copy_number.py checks # every row and that no row's targets or controls overlap any region (main or paralog copy) of a # model the pinned Parascopy data holds (assets/parascopy_models_v1.7.txt), except RHD (RHCE's # model), the one exemption the test names. UGT2B17 has no row: pypgx calls its copy number in # BAM mode (step 32, assets/pgx_genes.tsv). # # Coordinates are GRCh38 (no-ALT analysis set) in BED form: 0-based start, end exclusive, as # samtools bedcov reads them. targets, controls, details: NAME:start-end[:label], separated by ";", # all on the row's chrom. The estimate is scale x target depth / control depth - offset. # target_depth sum: the target segments' mean depths added up (each is one reference unit); # pooled: one length-weighted mean over all target segments # control_depth flanks: the mean of the control segments' means, each held to min_control_depth # and to max_control_ratio against the others; pooled: one length-weighted mean # bedcov the samtools bedcov options of each pass, "," between passes ("." = none); the # second pass, when there is one, is the MAPQ >= 1 pass the MAPQ 0 share comes from # mapq0_min a share of the target depth from reads of MAPQ 0 under which the aligner left out # the reads that fit several copies: not assessed (skipped when a row without offset # rounds to no copy: no read is left to judge by) # mapq0_max a share above which the target is mostly misplaced reads: not assessed # call round:D (a whole number within D), cut:A,B (copies = cut points reached), # class:LOW,HIGH (low, typical or high from the 95% interval) # interval cv: a 95% interval from the per-segment spread; "." none # readings KEY=text, "|" between: per count, per class, "more" for any count above the keys # input bedcov (this engine) or cnvpytor-level (CNVpytor's depth level, 1.0 = two copies) # owner the engine that calls the locus; cross_check: another engine that reports it, or none # HBA: MANE Select HBA2 NM_000517.6 and HBA1 NM_000558.5; flanks 40 kb of single-copy sequence each # side, outside the --SEA deletion and away from HBZ/HBZP1 and HBM. # LPA_KIV2: exons of ENST00000316300.10 (Ensembl, checked 2026-10-25); the KIV-2 block (exons 3 to # 16, six KIV-2 units plus the KIV-1/KIV-3 pair) against single-copy kringle exons 19 to 33. # scale 14 = seven reference exon pairs on two chromosomes; offset 2 = one single-copy pair each. # RHD: Ensembl ENST00000328664; flanks outside the common RHD deletion (RHD*01N.01). # HP, LCE3BC, CCL3L1: gene-dosage rows, total copies only, run by step 35 (DOSAGE_LOCI) into # _cn_dosage.tsv. Coordinates from Ensembl 116 and UCSC's segmental duplication track # (genomicSuperDups), checked 2026-11-03; every flank lies outside those duplications. # HP: the reference carries Hp2, the exon 3-4 duplication (Boettger 2016), as exons 3-4 and 5-6; # reads that fit both copies land on either, so the two copies are added up (Hp1-1 2, Hp2-2 4). # LCE3BC: the stretch from LCE3C to LCE3B lies inside the 32 kb LCE3C_LCE3B deletion (de Cid 2009). # CCL3L1: the no-ALT reference holds one copy, CCL3L3; every CCL3L1/CCL3L3 read lands there. # No reading: the disease links reported for this count are disputed. # DEFB4 has no row: the beta-defensin repeat lies in the paralog copies SPAG11A's Parascopy model # lists, so Parascopy owns it. locus kind chrom targets controls details target_depth control_depth scale offset bedcov mapq0_min mapq0_max min_control_depth max_control_ratio call interval readings input owner cross_check pmids HBA gene chr16 HBA2:172875-173710;HBA1:176679-177522 flank_left:100000-140000;flank_right:190000-230000 . sum flanks 2 0 .,-Q 1 0.02 . 8 1.5 round:0.3 . 0=no alpha-globin gene: the pattern of Hb Bart's hydrops fetalis (--/--); unconfirmed: this short-read count has been checked on one real genome only (HG002, four genes), so a count under four needs a clinical test before it means anything|1=one alpha-globin gene: the pattern of HbH disease (--/-a); unconfirmed: this short-read count has been checked on one real genome only (HG002, four genes), so a count under four needs a clinical test before it means anything|2=two alpha-globin genes: alpha-thalassaemia trait, either both genes lost on one chromosome (--/aa, as --SEA; a child with a partner who carries the same can have Hb Bart's) or one on each (-a/-a); depth cannot tell these apart; unconfirmed: this short-read count has been checked on one real genome only (HG002, four genes), so a count under four needs a clinical test before it means anything|3=three alpha-globin genes: one gene lost on one chromosome (-a/aa, as -a3.7 or -a4.2), a silent carrier; unconfirmed: this short-read count has been checked on one real genome only (HG002, four genes), so a count under four needs a clinical test before it means anything|4=four alpha-globin genes (aa/aa): no deletion seen|more={n} alpha-globin genes: more than four, a triplication (as aaa/aa) bedcov cn-depth paraphase:hba . LPA_KIV2 gene chr6 kiv2_e03:160646213-160646395;kiv2_e04:160644846-160645006;kiv2_e05:160640666-160640848;kiv2_e06:160639299-160639459;kiv2_e07:160635122-160635304;kiv2_e08:160633752-160633912;kiv2_e09:160629573-160629755;kiv2_e10:160628206-160628366;kiv2_e11:160624029-160624211;kiv2_e12:160622662-160622822;kiv2_e13:160618483-160618665;kiv2_e14:160617116-160617276;kiv2_e15:160612931-160613113;kiv2_e16:160611561-160611721 flank_e19:160600916-160601098;flank_e20:160599499-160599659;flank_e21:160595353-160595535;flank_e22:160593957-160594117;flank_e23:160590943-160591101;flank_e24:160589552-160589712;flank_e25:160586448-160586630;flank_e26:160585045-160585205;flank_e27:160578522-160578704;flank_e28:160577135-160577295;flank_e29:160557389-160557571;flank_e30:160556024-160556184;flank_e31:160548477-160548659;flank_e32:160547788-160547937;flank_e33:160545439-160545533 . pooled pooled 14 2 -j,-j -Q 1 0.2 . 10 . class:30,45 cv low=fewer KIV-2 repeats than most people (the whole 95% interval is under 30; about 70% of the 1000 Genomes samples had 30 to 45): a low count goes with small apo(a) isoforms and a higher Lp(a) level|typical=within or overlapping the range most people have (30 to 45 for about 70% of the 1000 Genomes samples)|high=more KIV-2 repeats than most people (the whole 95% interval is over 45): a high count goes with large apo(a) isoforms and, on average, a lower Lp(a) level bedcov cn-depth none 29973585,39449055,19509380 RHD gene chr1 RHD_GENE:25272392-25330445:RHD, first to last base (ENST00000328664) RHD_FLANK_UP:25199999-25260000:flank 12 kb upstream of RHD, outside the RHD deletion;RHD_FLANK_DOWN:25334999-25360000:flank downstream of RHD (TMEM50A), outside the RHD deletion RHD_EX1:25272508-25272695:RHD exon 1;RHD_EX2:25284572-25284759:RHD exon 2;RHD_EX3:25290640-25290791:RHD exon 3;RHD_EX4:25300945-25301093:RHD exon 4;RHD_EX5:25301519-25301686:RHD exon 5;RHD_EX6:25303321-25303459:RHD exon 6;RHD_EX7:25306595-25306729:RHD exon 7;RHD_EX8:25316999-25317079:RHD exon 8;RHD_EX9:25321888-25321962:RHD exon 9;RHD_EX10:25328897-25330445:RHD exon 10 sum pooled 2 0 -Q 20 -j . . 10 . cut:0.5,1.5 . 0=no RHD copy: the gene deleted on both chromosomes (RHD*01N.01/RHD*01N.01)|1=one RHD copy|2=two RHD copies bedcov cn-depth parascopy:RHCE . HP gene chr16 HP_UNIT1:72056529-72057466:HP exons 3 and 4, the first copy of the Hp2 duplication (ENST00000355906);HP_UNIT2:72058253-72059190:HP exons 5 and 6, its second copy HP_FLANK_L:72005000-72045000:flank upstream of HP;HP_FLANK_R:72085000-72125000:flank downstream of HPR . sum flanks 2 0 .,-Q 1 . . 8 1.5 round:0.3 . 0=no copy of the duplicated HP exons: no HP gene found on either chromosome|1=one copy of the duplicated HP exons: Hp1 on one chromosome and no HP gene found on the other|2=two copies of the duplicated HP exons: Hp1-1, or rarely Hp2 with no HP gene on the other chromosome|3=three copies of the duplicated HP exons: Hp2-1|4=four copies of the duplicated HP exons: Hp2-2|more={n} copies of the duplicated HP exons: more than Hp2-2 carries, an uncommon allele with a further copy bedcov cn-depth none 26901066 LCE3BC interval chr1 LCE3BC_DEL:152600233-152614098:LCE3C to LCE3B, inside the LCE3C_LCE3B deletion LCE3_FLANK_L:152520000-152560000:flank on the LCE3D side, outside the deletion;LCE3_FLANK_R:152640000-152680000:flank on the LCE3A side, outside the deletion . sum flanks 2 0 .,-Q 1 . . 8 1.5 round:0.3 . 0=LCE3B and LCE3C deleted on both chromosomes (LCE3C_LCE3B-del on both), a common genotype that goes with a higher psoriasis risk|1=LCE3B and LCE3C deleted on one chromosome (LCE3C_LCE3B-del on one)|2=no LCE3B/LCE3C deletion seen|more={n} copies of the LCE3B/LCE3C stretch: more than two, a duplication bedcov cn-depth none 19169253 CCL3L1 gene chr17 CCL3L3:36194868-36196758:CCL3L3, the one copy of CCL3L1/CCL3L3 on the reference (ENST00000619989) CCL3L_FLANK_L:36112000-36148000:single-copy sequence between the CCL3 and CCL3L3 duplications;CCL3L_FLANK_R:36460000-36500000:single-copy sequence past the duplications . sum flanks 2 0 .,-Q 1 . . 8 1.5 round:0.3 . 0=no copy of CCL3L1 or CCL3L3|1=one copy of CCL3L1/CCL3L3 in all|more={n} copies of CCL3L1/CCL3L3 in all: the count differs widely between people, and no reading of it is given bedcov cn-depth none 15637236 # --- interval rows: written by scripts/ci/build-cn-intervals.py; do not edit by hand --- 1q21.1_TAR_syndrome_proximal_BP2-BP3 interval chr1 1q21.1_TAR_syndrome_proximal_BP2-BP3_t1:145686999-145809382:1q21.1 recurrent (TAR syndrome) region (proximal, BP2-BP3) (includes RBM8A);1q21.1_TAR_syndrome_proximal_BP2-BP3_t2:145823828-145923649;1q21.1_TAR_syndrome_proximal_BP2-BP3_t3:145927476-146048495 1q21.1_TAR_syndrome_proximal_BP2-BP3_L:143034587-143134587:flank left of the region;1q21.1_TAR_syndrome_proximal_BP2-BP3_R:149926380-150026380:flank right of the region . pooled flanks 2 0 . . . 8 1.5 round:0.3 . . bedcov cn-depth cnvpytor:cnvs . 1q21.1_TAR_syndrome_proximal_and_distal_BP1-BP4 interval chr1 1q21.1_TAR_syndrome_proximal_and_distal_BP1-BP4_t1:145687000-145809382:1q21.1 recurrent (TAR syndrome) region (proximal and distal, BP1-BP4) (includes RBM8A and GJA5);1q21.1_TAR_syndrome_proximal_and_distal_BP1-BP4_t2:145823828-145923649;1q21.1_TAR_syndrome_proximal_and_distal_BP1-BP4_t3:145927476-146048496;1q21.1_TAR_syndrome_proximal_and_distal_BP1-BP4_t4:147105903-147473859;1q21.1_TAR_syndrome_proximal_and_distal_BP1-BP4_t5:147473859-147841815;1q21.1_TAR_syndrome_proximal_and_distal_BP1-BP4_t6:147842996-147917509 1q21.1_TAR_syndrome_proximal_and_distal_BP1-BP4_L:143034587-143134587:flank left of the region;1q21.1_TAR_syndrome_proximal_and_distal_BP1-BP4_R:149926380-150026380:flank right of the region . pooled flanks 2 0 . . . 8 1.5 round:0.3 . . bedcov cn-depth cnvpytor:cnvs . 1q21.1_distal_BP3-BP4 interval chr1 1q21.1_distal_BP3-BP4_t1:147105904-147473860:1q21.1 recurrent region (distal, BP3-BP4) (includes GJA5);1q21.1_distal_BP3-BP4_t2:147473860-147841815;1q21.1_distal_BP3-BP4_t3:147842996-147917509 1q21.1_distal_BP3-BP4_L:143034587-143134587:flank left of the region;1q21.1_distal_BP3-BP4_R:149926380-150026380:flank right of the region . pooled flanks 2 0 . . . 8 1.5 round:0.3 . . bedcov cn-depth cnvpytor:cnvs . 2p11.2 interval chr2 2p11.2_t1:88022824-88389269:2p11.2 recurrent region (includes EIF2AK3, RPIA);2p11.2_t2:88389269-88755713 2p11.2_L:86554206-86654206:flank left of the region;2p11.2_R:90405714-90505714:flank right of the region . pooled flanks 2 0 . . . 8 1.5 round:0.3 . . bedcov cn-depth cnvpytor:cnvs . 2q11.2 interval chr2 2q11.2_t1:96073264-96539478:2q11.2 recurrent region (includes ARID5A, TMEM127);2q11.2_t2:96539478-97005692 2q11.2_L:95249415-95349415:flank left of the region;2q11.2_R:97693145-97793145:flank right of the region . pooled flanks 2 0 . . . 8 1.5 round:0.3 . . bedcov cn-depth cnvpytor:cnvs . 2q13_proximal interval chr2 2q13_proximal_t1:110104531-110185037:2q13 recurrent region (proximal) (includes NPHP1);2q13_proximal_t2:110186837-110228181 2q13_proximal_L:109561396-109661396:flank left of the region;2q13_proximal_R:112509875-112609875:flank right of the region . pooled flanks 2 0 . . . 8 1.5 round:0.3 . . bedcov cn-depth cnvpytor:cnvs . 2q13_distal interval chr2 2q13_distal_t1:110634616-110635231:2q13 recurrent region (distal) (includes BCL2L11);2q13_distal_t2:110635407-110695526;2q13_distal_t3:110699475-110967774;2q13_distal_t4:110968796-111223194;2q13_distal_t5:111225336-111252925;2q13_distal_t6:111519068-111525222;2q13_distal_t7:111615296-111719716;2q13_distal_t8:111882691-112278330;2q13_distal_t9:112287893-112291400;2q13_distal_t10:112293808-112347165 2q13_distal_L:109561396-109661396:flank left of the region;2q13_distal_R:112509875-112609875:flank right of the region . pooled flanks 2 0 . . . 8 1.5 round:0.3 . . bedcov cn-depth cnvpytor:cnvs . 2q21.1 interval chr2 2q21.1_t1:130719936-131172120:2q21.1 recurrent region (includes ARHGEF4, GPR148) 2q21.1_L:129811225-129911225:flank left of the region;2q21.1_R:132414062-132514062:flank right of the region . pooled flanks 2 0 . . . 8 1.5 round:0.3 . . bedcov cn-depth cnvpytor:cnvs . 3q29 interval chr3 3q29_t1:196029183-196395167:3q29 recurrent region (includes DLG1);3q29_t2:196395167-196761150;3q29_t3:196761870-196828315;3q29_t4:196832644-196986594;3q29_t5:196987637-197032456;3q29_t6:197035076-197436093;3q29_t7:197438625-197617791 3q29_L:195370170-195470170:flank left of the region;3q29_R:197770554-197870554:flank right of the region . pooled flanks 2 0 . . . 8 1.5 round:0.3 . . bedcov cn-depth cnvpytor:cnvs . 5q35_Sotos_syndrome interval chr5 5q35_Sotos_syndrome_t1:176301976-176346064:5q35 recurrent (Sotos syndrome) region (includes NSD1);5q35_Sotos_syndrome_t2:176348356-176609606;5q35_Sotos_syndrome_t3:176609606-176870856;5q35_Sotos_syndrome_t4:176873194-177156949;5q35_Sotos_syndrome_t5:177156949-177440704;5q35_Sotos_syndrome_t6:177442622-177620792 5q35_Sotos_syndrome_L:175752456-175852456:flank left of the region;5q35_Sotos_syndrome_R:178185883-178285883:flank right of the region . pooled flanks 2 0 . . . 8 1.5 round:0.3 . . bedcov cn-depth cnvpytor:cnvs . 7q11.23_Williams-Beuren_syndrome interval chr7 7q11.23_Williams-Beuren_syndrome_t1:73330452-73373003:7q11.23 recurrent (Williams-Beuren syndrome) region (includes ELN);7q11.23_Williams-Beuren_syndrome_t2:73380068-73398750;7q11.23_Williams-Beuren_syndrome_t3:73417318-73440409;7q11.23_Williams-Beuren_syndrome_t4:73442040-73900880;7q11.23_Williams-Beuren_syndrome_t5:73911711-73943245;7q11.23_Williams-Beuren_syndrome_t6:73973000-73982740;7q11.23_Williams-Beuren_syndrome_t7:73990695-73993203;7q11.23_Williams-Beuren_syndrome_t8:73995261-74194738;7q11.23_Williams-Beuren_syndrome_t9:74197101-74536524;7q11.23_Williams-Beuren_syndrome_t10:74565485-74567048;7q11.23_Williams-Beuren_syndrome_t11:74571222-74576545;7q11.23_Williams-Beuren_syndrome_t12:74599408-74650287;7q11.23_Williams-Beuren_syndrome_t13:74650795-74728173 7q11.23_Williams-Beuren_syndrome_L:72415064-72515064:flank left of the region;7q11.23_Williams-Beuren_syndrome_R:77185726-77285726:flank right of the region . pooled flanks 2 0 . . . 8 1.5 round:0.3 . . bedcov cn-depth cnvpytor:cnvs . 7q11.23 interval chr7 7q11.23_t1:75528718-75922712:7q11.23 recurrent distal region (includes HIP1, YWHAG);7q11.23_t2:75924249-76071493;7q11.23_t3:76073808-76087747;7q11.23_t4:76105300-76105897;7q11.23_t5:76177734-76433859 7q11.23_L:72415790-72515790:flank left of the region;7q11.23_R:77229655-77329655:flank right of the region . pooled flanks 2 0 . . . 8 1.5 round:0.3 . . bedcov cn-depth cnvpytor:cnvs . 8p23.1 interval chr8 8p23.1_t1:8242542-8631046:8p23.1 recurrent region (includes GATA4);8p23.1_t2:8631046-9019550;8p23.1_t3:9019550-9408054;8p23.1_t4:9408054-9796558;8p23.1_t5:9799208-10151922;8p23.1_t6:10151922-10504636;8p23.1_t7:10506824-10918077;8p23.1_t8:10918077-11329329;8p23.1_t9:11332201-11624615;8p23.1_t10:11657572-11758866;8p23.1_t11:11760002-11790306;8p23.1_t12:11793265-11908820 8p23.1_L:6826263-6926263:flank left of the region;8p23.1_R:12769873-12869873:flank right of the region . pooled flanks 2 0 . . . 8 1.5 round:0.3 . . bedcov cn-depth cnvpytor:cnvs . 10q11.2_LCR_C-LCR_D interval chr10 10q11.2_LCR_C-LCR_D_t1:48181660-48588063:10q11.2 recurrent region (LCR C-LCR D);10q11.2_LCR_C-LCR_D_t2:48588063-48994466;10q11.2_LCR_C-LCR_D_t3:48994466-49400869;10q11.2_LCR_C-LCR_D_t4:49403230-49515152;10q11.2_LCR_C-LCR_D_t5:49517557-49771065;10q11.2_LCR_C-LCR_D_t6:49774433-49778835;10q11.2_LCR_C-LCR_D_t7:49781219-49845537 10q11.2_LCR_C-LCR_D_L:45521834-45621834:flank left of the region;10q11.2_LCR_C-LCR_D_R:50834350-50934350:flank right of the region . pooled flanks 2 0 . . . 8 1.5 round:0.3 . . bedcov cn-depth cnvpytor:cnvs . 10q11.2_LCR_C-LCR_F interval chr10 10q11.2_LCR_C-LCR_F_t1:48181661-48588064:10q11.2 recurrent region (LCR C-LCR F);10q11.2_LCR_C-LCR_F_t2:48588064-48994467;10q11.2_LCR_C-LCR_F_t3:48994467-49400869;10q11.2_LCR_C-LCR_F_t4:49403230-49515152;10q11.2_LCR_C-LCR_F_t5:49517557-49771065;10q11.2_LCR_C-LCR_F_t6:49774433-49778835;10q11.2_LCR_C-LCR_F_t7:49781219-49845538;10q11.2_LCR_C-LCR_F_t8:50201000-50628504;10q11.2_LCR_C-LCR_F_t9:50630070-50655358 10q11.2_LCR_C-LCR_F_L:45521834-45621834:flank left of the region;10q11.2_LCR_C-LCR_F_R:50834350-50934350:flank right of the region . pooled flanks 2 0 . . . 8 1.5 round:0.3 . . bedcov cn-depth cnvpytor:cnvs . 10q22.3q23.2 interval chr10 10q22.3q23.2_t1:79923087-79982995:10q22.3q23.2 recurrent region (includes BMPR1A);10q22.3q23.2_t2:79987131-80009954;10q22.3q23.2_t3:80013908-80018239;10q22.3q23.2_t4:80045634-80081133;10q22.3q23.2_t5:80103139-80131070;10q22.3q23.2_t6:80147027-80209920;10q22.3q23.2_t7:80258685-80700907;10q22.3q23.2_t8:80700907-81143128;10q22.3q23.2_t9:81145195-81603712;10q22.3q23.2_t10:81603712-82062229;10q22.3q23.2_t11:82062229-82520746;10q22.3q23.2_t12:82520746-82979263;10q22.3q23.2_t13:82979263-83437780;10q22.3q23.2_t14:83437780-83896292;10q22.3q23.2_t15:83897369-84081413;10q22.3q23.2_t16:84083161-84390905;10q22.3q23.2_t17:84393707-84679573;10q22.3q23.2_t18:84679573-84965438;10q22.3q23.2_t19:84966462-84968275;10q22.3q23.2_t20:84969639-85315330;10q22.3q23.2_t21:85315330-85661021;10q22.3q23.2_t22:85661021-86006710;10q22.3q23.2_t23:86008355-86465864;10q22.3q23.2_t24:86465864-86923373;10q22.3q23.2_t25:86925182-86979631 10q22.3q23.2_L:79400803-79500803:flank left of the region;10q22.3q23.2_R:87550607-87650607:flank right of the region . pooled flanks 2 0 . . . 8 1.5 round:0.3 . . bedcov cn-depth cnvpytor:cnvs . 11q13.2q13.4 interval chr11 11q13.2q13.4_t1:67996175-68021419:11q13.2q13.4 recurrent region (includes SHANK2, FGFs);11q13.2q13.4_t2:68022783-68303534;11q13.2q13.4_t3:68332191-68356675;11q13.2q13.4_t4:68392474-68403076;11q13.2q13.4_t5:68407506-68890756;11q13.2q13.4_t6:68890756-69374006;11q13.2q13.4_t7:69374006-69857256;11q13.2q13.4_t8:69857256-70340504;11q13.2q13.4_t9:70341528-70344601;11q13.2q13.4_t10:70345623-70643160;11q13.2q13.4_t11:70643160-70940696;11q13.2q13.4_t12:70955696-71055696;11q13.2q13.4_t13:71070696-71116951;11q13.2q13.4_t14:71165977-71525885 11q13.2q13.4_L:67556564-67656564:flank left of the region;11q13.2q13.4_R:71963397-72063397:flank right of the region . pooled flanks 2 0 . . . 8 1.5 round:0.3 . . bedcov cn-depth cnvpytor:cnvs . 13q12.12 interval chr13 13q12.12_t1:22970443-23134172:13q12.12 recurrent region (includes SACS, SGCG);13q12.12_t2:23135887-23244684;13q12.12_t3:23250456-23422194;13q12.12_t4:23424929-23713633;13q12.12_t5:23715919-23716442;13q12.12_t6:23716630-23880085;13q12.12_t7:23904739-23938589;13q12.12_t8:23939257-23940551;13q12.12_t9:23946299-23953512;13q12.12_t10:23956049-24121032;13q12.12_t11:24123815-24307222 13q12.12_L:22651590-22751590:flank left of the region;13q12.12_R:24684489-24784489:flank right of the region . pooled flanks 2 0 . . . 8 1.5 round:0.3 . . bedcov cn-depth cnvpytor:cnvs . 15q11.2_BP1-BP2 interval chr15 15q11.2_BP1-BP2_t1:22782170-23040134:15q11.2 recurrent region (BP1-BP2) (includes NIPA1) 15q11.2_BP1-BP2_R:34647508-34747508:flank right of the region . pooled flanks 2 0 . . . 8 1.5 round:0.3 . . bedcov cn-depth cnvpytor:cnvs . 15q11.2q13_PWS_AS_Class_I_BP1-BP3 interval chr15 15q11.2q13_PWS_AS_Class_I_BP1-BP3_t1:22782170-23040135:15q11.2q13 recurrent (PWS/AS) region (Class I, BP1-BP3);15q11.2q13_PWS_AS_Class_I_BP1-BP3_t2:23465364-23685679;15q11.2q13_PWS_AS_Class_I_BP1-BP3_t3:23687303-24010500;15q11.2q13_PWS_AS_Class_I_BP1-BP3_t4:24011064-24087204;15q11.2q13_PWS_AS_Class_I_BP1-BP3_t5:24154836-24157282;15q11.2q13_PWS_AS_Class_I_BP1-BP3_t6:24250757-24256707;15q11.2q13_PWS_AS_Class_I_BP1-BP3_t7:24495017-24496953;15q11.2q13_PWS_AS_Class_I_BP1-BP3_t8:24578602-24754009;15q11.2q13_PWS_AS_Class_I_BP1-BP3_t9:24754335-24908854;15q11.2q13_PWS_AS_Class_I_BP1-BP3_t10:24909880-25167285;15q11.2q13_PWS_AS_Class_I_BP1-BP3_t11:25169694-25269652;15q11.2q13_PWS_AS_Class_I_BP1-BP3_t12:25271058-25370565;15q11.2q13_PWS_AS_Class_I_BP1-BP3_t13:25371814-25659393;15q11.2q13_PWS_AS_Class_I_BP1-BP3_t14:25659393-25946971;15q11.2q13_PWS_AS_Class_I_BP1-BP3_t15:25951178-26435552;15q11.2q13_PWS_AS_Class_I_BP1-BP3_t16:26435552-26919926;15q11.2q13_PWS_AS_Class_I_BP1-BP3_t17:26919926-27404300;15q11.2q13_PWS_AS_Class_I_BP1-BP3_t18:27404300-27888672;15q11.2q13_PWS_AS_Class_I_BP1-BP3_t19:27889772-27894580;15q11.2q13_PWS_AS_Class_I_BP1-BP3_t20:27895234-27998550;15q11.2q13_PWS_AS_Class_I_BP1-BP3_t21:27999198-28134728 15q11.2q13_PWS_AS_Class_I_BP1-BP3_R:34647508-34747508:flank right of the region . pooled flanks 2 0 . . . 8 1.5 round:0.3 . . bedcov cn-depth cnvpytor:cnvs . 15q11.2q13_PWS_AS_BP1-BP4 interval chr15 15q11.2q13_PWS_AS_BP1-BP4_t1:22782171-23040135:15q11.2q13 recurrent (PWS/AS) region (BP1-BP4);15q11.2q13_PWS_AS_BP1-BP4_t2:23465364-23685679;15q11.2q13_PWS_AS_BP1-BP4_t3:23687303-24010500;15q11.2q13_PWS_AS_BP1-BP4_t4:24011064-24087204;15q11.2q13_PWS_AS_BP1-BP4_t5:24154836-24157282;15q11.2q13_PWS_AS_BP1-BP4_t6:24250757-24256707;15q11.2q13_PWS_AS_BP1-BP4_t7:24495017-24496953;15q11.2q13_PWS_AS_BP1-BP4_t8:24578602-24754009;15q11.2q13_PWS_AS_BP1-BP4_t9:24754335-24908854;15q11.2q13_PWS_AS_BP1-BP4_t10:24909880-25167285;15q11.2q13_PWS_AS_BP1-BP4_t11:25169694-25269652;15q11.2q13_PWS_AS_BP1-BP4_t12:25271058-25370565;15q11.2q13_PWS_AS_BP1-BP4_t13:25371814-25659393;15q11.2q13_PWS_AS_BP1-BP4_t14:25659393-25946971;15q11.2q13_PWS_AS_BP1-BP4_t15:25951178-26435552;15q11.2q13_PWS_AS_BP1-BP4_t16:26435552-26919926;15q11.2q13_PWS_AS_BP1-BP4_t17:26919926-27404300;15q11.2q13_PWS_AS_BP1-BP4_t18:27404300-27888672;15q11.2q13_PWS_AS_BP1-BP4_t19:27889772-27894580;15q11.2q13_PWS_AS_BP1-BP4_t20:27895234-27998550;15q11.2q13_PWS_AS_BP1-BP4_t21:27999198-28134729;15q11.2q13_PWS_AS_BP1-BP4_t22:28916885-29053771;15q11.2q13_PWS_AS_BP1-BP4_t23:29055911-29065471;15q11.2q13_PWS_AS_BP1-BP4_t24:29069337-29228978;15q11.2q13_PWS_AS_BP1-BP4_t25:29233760-29730610;15q11.2q13_PWS_AS_BP1-BP4_t26:29731821-30005618;15q11.2q13_PWS_AS_BP1-BP4_t27:30006801-30044722;15q11.2q13_PWS_AS_BP1-BP4_t28:30046094-30076787 15q11.2q13_PWS_AS_BP1-BP4_R:34647508-34747508:flank right of the region . pooled flanks 2 0 . . . 8 1.5 round:0.3 . . bedcov cn-depth cnvpytor:cnvs . 15q11.2q13_PWS_AS_Class_II_BP2-BP3 interval chr15 15q11.2q13_PWS_AS_Class_II_BP2-BP3_t1:23465365-23685679:15q11.2q13 recurrent (PWS/AS) region (Class II, BP2-BP3);15q11.2q13_PWS_AS_Class_II_BP2-BP3_t2:23687303-24010500;15q11.2q13_PWS_AS_Class_II_BP2-BP3_t3:24011064-24087204;15q11.2q13_PWS_AS_Class_II_BP2-BP3_t4:24154836-24157282;15q11.2q13_PWS_AS_Class_II_BP2-BP3_t5:24250757-24256707;15q11.2q13_PWS_AS_Class_II_BP2-BP3_t6:24495017-24496953;15q11.2q13_PWS_AS_Class_II_BP2-BP3_t7:24578602-24754009;15q11.2q13_PWS_AS_Class_II_BP2-BP3_t8:24754335-24908854;15q11.2q13_PWS_AS_Class_II_BP2-BP3_t9:24909880-25167285;15q11.2q13_PWS_AS_Class_II_BP2-BP3_t10:25169694-25269652;15q11.2q13_PWS_AS_Class_II_BP2-BP3_t11:25271058-25370565;15q11.2q13_PWS_AS_Class_II_BP2-BP3_t12:25371814-25659393;15q11.2q13_PWS_AS_Class_II_BP2-BP3_t13:25659393-25946971;15q11.2q13_PWS_AS_Class_II_BP2-BP3_t14:25951178-26435552;15q11.2q13_PWS_AS_Class_II_BP2-BP3_t15:26435552-26919926;15q11.2q13_PWS_AS_Class_II_BP2-BP3_t16:26919926-27404300;15q11.2q13_PWS_AS_Class_II_BP2-BP3_t17:27404300-27888672;15q11.2q13_PWS_AS_Class_II_BP2-BP3_t18:27889772-27894580;15q11.2q13_PWS_AS_Class_II_BP2-BP3_t19:27895234-27998550;15q11.2q13_PWS_AS_Class_II_BP2-BP3_t20:27999198-28134728 15q11.2q13_PWS_AS_Class_II_BP2-BP3_R:34647508-34747508:flank right of the region . pooled flanks 2 0 . . . 8 1.5 round:0.3 . . bedcov cn-depth cnvpytor:cnvs . 15q11.2q13_PWS_AS_BP2-BP4 interval chr15 15q11.2q13_PWS_AS_BP2-BP4_t1:23465366-23685679:15q11.2q13 recurrent (PWS/AS) region (BP2-BP4);15q11.2q13_PWS_AS_BP2-BP4_t2:23687303-24010500;15q11.2q13_PWS_AS_BP2-BP4_t3:24011064-24087204;15q11.2q13_PWS_AS_BP2-BP4_t4:24154836-24157282;15q11.2q13_PWS_AS_BP2-BP4_t5:24250757-24256707;15q11.2q13_PWS_AS_BP2-BP4_t6:24495017-24496953;15q11.2q13_PWS_AS_BP2-BP4_t7:24578602-24754009;15q11.2q13_PWS_AS_BP2-BP4_t8:24754335-24908854;15q11.2q13_PWS_AS_BP2-BP4_t9:24909880-25167285;15q11.2q13_PWS_AS_BP2-BP4_t10:25169694-25269652;15q11.2q13_PWS_AS_BP2-BP4_t11:25271058-25370565;15q11.2q13_PWS_AS_BP2-BP4_t12:25371814-25659393;15q11.2q13_PWS_AS_BP2-BP4_t13:25659393-25946971;15q11.2q13_PWS_AS_BP2-BP4_t14:25951178-26435552;15q11.2q13_PWS_AS_BP2-BP4_t15:26435552-26919926;15q11.2q13_PWS_AS_BP2-BP4_t16:26919926-27404300;15q11.2q13_PWS_AS_BP2-BP4_t17:27404300-27888672;15q11.2q13_PWS_AS_BP2-BP4_t18:27889772-27894580;15q11.2q13_PWS_AS_BP2-BP4_t19:27895234-27998550;15q11.2q13_PWS_AS_BP2-BP4_t20:27999198-28134729;15q11.2q13_PWS_AS_BP2-BP4_t21:28916885-29053771;15q11.2q13_PWS_AS_BP2-BP4_t22:29055911-29065471;15q11.2q13_PWS_AS_BP2-BP4_t23:29069337-29228978;15q11.2q13_PWS_AS_BP2-BP4_t24:29233760-29730610;15q11.2q13_PWS_AS_BP2-BP4_t25:29731821-30005618;15q11.2q13_PWS_AS_BP2-BP4_t26:30006801-30044722;15q11.2q13_PWS_AS_BP2-BP4_t27:30046094-30076787 15q11.2q13_PWS_AS_BP2-BP4_R:34647508-34747508:flank right of the region . pooled flanks 2 0 . . . 8 1.5 round:0.3 . . bedcov cn-depth cnvpytor:cnvs . 15q13_BP3-BP4 interval chr15 15q13_BP3-BP4_t1:28916886-29053771:15q13 recurrent region (BP3-BP4) (includes APBA2);15q13_BP3-BP4_t2:29055911-29065471;15q13_BP3-BP4_t3:29069337-29228978;15q13_BP3-BP4_t4:29233760-29730610;15q13_BP3-BP4_t5:29731821-30005618;15q13_BP3-BP4_t6:30006801-30044722;15q13_BP3-BP4_t7:30046094-30076787 15q13_BP3-BP4_R:34647508-34747508:flank right of the region . pooled flanks 2 0 . . . 8 1.5 round:0.3 . . bedcov cn-depth cnvpytor:cnvs . 15q13.1q13.3_BP3-BP5 interval chr15 15q13.1q13.3_BP3-BP5_t1:28916887-29053771:15q13.1q13.3 recurrent region (BP3-BP5) (includes CHRNA7);15q13.1q13.3_BP3-BP5_t2:29055911-29065471;15q13.1q13.3_BP3-BP5_t3:29069337-29228978;15q13.1q13.3_BP3-BP5_t4:29233760-29730610;15q13.1q13.3_BP3-BP5_t5:29731821-30005618;15q13.1q13.3_BP3-BP5_t6:30006801-30044722;15q13.1q13.3_BP3-BP5_t7:30046094-30076788;15q13.1q13.3_BP3-BP5_t8:30900685-31259237;15q13.1q13.3_BP3-BP5_t9:31259237-31617789;15q13.1q13.3_BP3-BP5_t10:31735058-31764141;15q13.1q13.3_BP3-BP5_t11:31768318-32153204 15q13.1q13.3_BP3-BP5_R:34647508-34747508:flank right of the region . pooled flanks 2 0 . . . 8 1.5 round:0.3 . . bedcov cn-depth cnvpytor:cnvs . 15q13.3_BP4-BP5 interval chr15 15q13.3_BP4-BP5_t1:30900686-31259238:15q13.3 recurrent region (BP4-BP5) (includes CHRNA7);15q13.3_BP4-BP5_t2:31259238-31617789;15q13.3_BP4-BP5_t3:31735058-31764141;15q13.3_BP4-BP5_t4:31768318-32153204 15q13.3_BP4-BP5_R:34647508-34747508:flank right of the region . pooled flanks 2 0 . . . 8 1.5 round:0.3 . . bedcov cn-depth cnvpytor:cnvs . 15q13.3_D-CHRNA7_to_BP5 interval chr15 15q13.3_D-CHRNA7_to_BP5_t1:31735058-31764141:15q13.3 recurrent region (D-CHRNA7 to BP5) (includes CHRNA7, OTUD7A);15q13.3_D-CHRNA7_to_BP5_t2:31768318-32153204 15q13.3_D-CHRNA7_to_BP5_R:34647508-34747508:flank right of the region . pooled flanks 2 0 . . . 8 1.5 round:0.3 . . bedcov cn-depth cnvpytor:cnvs . 15q13.3q14_BP5-BP6 interval chr15 15q13.3q14_BP5-BP6_t1:32607509-33012322:15q13.3q14 recurrent region (BP5-BP6) (includes GREM1);15q13.3q14_BP5-BP6_t2:33013398-33468532;15q13.3q14_BP5-BP6_t3:33468532-33923666;15q13.3q14_BP5-BP6_t4:33923666-34378800 15q13.3q14_BP5-BP6_R:34690717-34790717:flank right of the region . pooled flanks 2 0 . . . 8 1.5 round:0.3 . . bedcov cn-depth cnvpytor:cnvs . 15q24_LCR_A-LCR_C interval chr15 15q24_LCR_A-LCR_C_t1:72671374-72682053:15q24 recurrent region (LCR A-LCR C);15q24_LCR_A-LCR_C_t2:72683710-72899078;15q24_LCR_A-LCR_C_t3:72900361-73284156;15q24_LCR_A-LCR_C_t4:73284156-73667951;15q24_LCR_A-LCR_C_t5:73667951-74051745;15q24_LCR_A-LCR_C_t6:74120301-74595608;15q24_LCR_A-LCR_C_t7:74598046-74907009;15q24_LCR_A-LCR_C_t8:74907009-75215971 15q24_LCR_A-LCR_C_L:72455531-72555531:flank left of the region;15q24_LCR_A-LCR_C_R:78050834-78150834:flank right of the region . pooled flanks 2 0 . . . 8 1.5 round:0.3 . . bedcov cn-depth cnvpytor:cnvs . 15q24_LCR_A-LCR_D interval chr15 15q24_LCR_A-LCR_D_t1:72671374-72682053:15q24 recurrent region (LCR A-LCR D) (includes SIN3A);15q24_LCR_A-LCR_D_t2:72683710-72899078;15q24_LCR_A-LCR_D_t3:72900361-73284156;15q24_LCR_A-LCR_D_t4:73284156-73667951;15q24_LCR_A-LCR_D_t5:73667951-74051745;15q24_LCR_A-LCR_D_t6:74120301-74595608;15q24_LCR_A-LCR_D_t7:74598046-74907009;15q24_LCR_A-LCR_D_t8:74907009-75215972;15q24_LCR_A-LCR_D_t9:75339445-75381921;15q24_LCR_A-LCR_D_t10:75386986-75480313;15q24_LCR_A-LCR_D_t11:75482930-75512491;15q24_LCR_A-LCR_D_t12:75514448-75680568 15q24_LCR_A-LCR_D_L:72455531-72555531:flank left of the region;15q24_LCR_A-LCR_D_R:78050834-78150834:flank right of the region . pooled flanks 2 0 . . . 8 1.5 round:0.3 . . bedcov cn-depth cnvpytor:cnvs . 15q24_LCR_A-LCR_B interval chr15 15q24_LCR_A-LCR_B_t1:72671375-72682053:15q24 recurrent region (LCR A-LCR B);15q24_LCR_A-LCR_B_t2:72683710-72899078;15q24_LCR_A-LCR_B_t3:72900361-73284155;15q24_LCR_A-LCR_B_t4:73284155-73667949;15q24_LCR_A-LCR_B_t5:73667949-74051743 15q24_LCR_A-LCR_B_L:72455531-72555531:flank left of the region;15q24_LCR_A-LCR_B_R:78050834-78150834:flank right of the region . pooled flanks 2 0 . . . 8 1.5 round:0.3 . . bedcov cn-depth cnvpytor:cnvs . 15q24_LCR_B-LCR_C interval chr15 15q24_LCR_B-LCR_C_t1:74120302-74595608:15q24 recurrent region (LCR B-LCR C);15q24_LCR_B-LCR_C_t2:74598046-74907009;15q24_LCR_B-LCR_C_t3:74907009-75215971 15q24_LCR_B-LCR_C_L:72455531-72555531:flank left of the region;15q24_LCR_B-LCR_C_R:78050834-78150834:flank right of the region . pooled flanks 2 0 . . . 8 1.5 round:0.3 . . bedcov cn-depth cnvpytor:cnvs . 15q24_LCR_B-LCR_D interval chr15 15q24_LCR_B-LCR_D_t1:74120302-74595608:15q24 recurrent region (LCR B-LCR D) (includes SIN3A);15q24_LCR_B-LCR_D_t2:74598046-74907009;15q24_LCR_B-LCR_D_t3:74907009-75215972;15q24_LCR_B-LCR_D_t4:75339445-75381921;15q24_LCR_B-LCR_D_t5:75386986-75480313;15q24_LCR_B-LCR_D_t6:75482930-75512491;15q24_LCR_B-LCR_D_t7:75514448-75680568 15q24_LCR_B-LCR_D_L:72455531-72555531:flank left of the region;15q24_LCR_B-LCR_D_R:78050834-78150834:flank right of the region . pooled flanks 2 0 . . . 8 1.5 round:0.3 . . bedcov cn-depth cnvpytor:cnvs . 15q24_LCR_B-LCR_E interval chr15 15q24_LCR_B-LCR_E_t1:74120302-74595608:15q24 recurrent region (LCR B-LCR E) (includes SIN3A);15q24_LCR_B-LCR_E_t2:74598046-74907009;15q24_LCR_B-LCR_E_t3:74907009-75215972;15q24_LCR_B-LCR_E_t4:75339445-75381921;15q24_LCR_B-LCR_E_t5:75386986-75480313;15q24_LCR_B-LCR_E_t6:75482930-75512491;15q24_LCR_B-LCR_E_t7:75514448-75680569;15q24_LCR_B-LCR_E_t8:75822911-75846817;15q24_LCR_B-LCR_E_t9:75850869-75881298;15q24_LCR_B-LCR_E_t10:75882410-76257102;15q24_LCR_B-LCR_E_t11:76259376-76619173;15q24_LCR_B-LCR_E_t12:76619173-76978969;15q24_LCR_B-LCR_E_t13:76980529-77278454;15q24_LCR_B-LCR_E_t14:77279850-77314069;15q24_LCR_B-LCR_E_t15:77315649-77559142;15q24_LCR_B-LCR_E_t16:77562827-77858909 15q24_LCR_B-LCR_E_L:72455531-72555531:flank left of the region;15q24_LCR_B-LCR_E_R:78050834-78150834:flank right of the region . pooled flanks 2 0 . . . 8 1.5 round:0.3 . . bedcov cn-depth cnvpytor:cnvs . 15q24_LCR_C-LCR_D interval chr15 15q24_LCR_C-LCR_D_t1:75339446-75381921:15q24 recurrent region (LCR C-LCR D) (includes SIN3A);15q24_LCR_C-LCR_D_t2:75386986-75480313;15q24_LCR_C-LCR_D_t3:75482930-75512491;15q24_LCR_C-LCR_D_t4:75514448-75680568 15q24_LCR_C-LCR_D_L:72455531-72555531:flank left of the region;15q24_LCR_C-LCR_D_R:78050834-78150834:flank right of the region . pooled flanks 2 0 . . . 8 1.5 round:0.3 . . bedcov cn-depth cnvpytor:cnvs . 15q24_LCR_D-LCR_E interval chr15 15q24_LCR_D-LCR_E_t1:75822911-75846817:15q24 recurrent region (LCR D-LCR E);15q24_LCR_D-LCR_E_t2:75850869-75881298;15q24_LCR_D-LCR_E_t3:75882410-76257102;15q24_LCR_D-LCR_E_t4:76259376-76619173;15q24_LCR_D-LCR_E_t5:76619173-76978969;15q24_LCR_D-LCR_E_t6:76980529-77278454;15q24_LCR_D-LCR_E_t7:77279850-77314069;15q24_LCR_D-LCR_E_t8:77315649-77559142;15q24_LCR_D-LCR_E_t9:77562827-77858909 15q24_LCR_D-LCR_E_L:72455531-72555531:flank left of the region;15q24_LCR_D-LCR_E_R:78050834-78150834:flank right of the region . pooled flanks 2 0 . . . 8 1.5 round:0.3 . . bedcov cn-depth cnvpytor:cnvs . 15q25.2q25.3_proximal_and_distal_LCR_A_B-D interval chr15 15q25.2q25.3_proximal_and_distal_LCR_A_B-D_t1:82534139-82613798:15q25.2q25.3 recurrent region (proximal and distal, LCR A/B-D) (includes RPS17);15q25.2q25.3_proximal_and_distal_LCR_A_B-D_t2:82614158-82809649;15q25.2q25.3_proximal_and_distal_LCR_A_B-D_t3:82827843-83233890;15q25.2q25.3_proximal_and_distal_LCR_A_B-D_t4:83233890-83639937;15q25.2q25.3_proximal_and_distal_LCR_A_B-D_t5:83639937-84045982;15q25.2q25.3_proximal_and_distal_LCR_A_B-D_t6:84596420-84634582;15q25.2q25.3_proximal_and_distal_LCR_A_B-D_t7:84636031-84801860;15q25.2q25.3_proximal_and_distal_LCR_A_B-D_t8:84803285-85169770 15q25.2q25.3_proximal_and_distal_LCR_A_B-D_L:82040662-82140662:flank left of the region;15q25.2q25.3_proximal_and_distal_LCR_A_B-D_R:85526412-85626412:flank right of the region . pooled flanks 2 0 . . . 8 1.5 round:0.3 . . bedcov cn-depth cnvpytor:cnvs . 15q25.2_proximal_LCR_A_B-C interval chr15 15q25.2_proximal_LCR_A_B-C_t1:82534140-82613798:15q25.2 recurrent region (proximal, LCR A/B-C) (includes RPS17);15q25.2_proximal_LCR_A_B-C_t2:82614158-82809649;15q25.2_proximal_LCR_A_B-C_t3:82827843-83233889;15q25.2_proximal_LCR_A_B-C_t4:83233889-83639935;15q25.2_proximal_LCR_A_B-C_t5:83639935-84045981 15q25.2_proximal_LCR_A_B-C_L:82040662-82140662:flank left of the region;15q25.2_proximal_LCR_A_B-C_R:85526412-85626412:flank right of the region . pooled flanks 2 0 . . . 8 1.5 round:0.3 . . bedcov cn-depth cnvpytor:cnvs . 15q25.2q25.3_distal_LCR_C-D interval chr15 15q25.2q25.3_distal_LCR_C-D_t1:84596421-84634582:15q25.2q25.3 recurrent region (distal, LCR C-D);15q25.2q25.3_distal_LCR_C-D_t2:84636031-84801860;15q25.2q25.3_distal_LCR_C-D_t3:84803285-85169770 15q25.2q25.3_distal_LCR_C-D_L:82040662-82140662:flank left of the region;15q25.2q25.3_distal_LCR_C-D_R:85526412-85626412:flank right of the region . pooled flanks 2 0 . . . 8 1.5 round:0.3 . . bedcov cn-depth cnvpytor:cnvs . 16p13.11_BP1-BP3 interval chr16 16p13.11_BP1-BP3_t1:15030912-15062395:16p13.11 recurrent region (BP1-BP3) (includes MYH11);16p13.11_BP1-BP3_t2:15417853-15808131;16p13.11_BP1-BP3_t3:15808131-16198408 16p13.11_BP1-BP3_L:14580912-14680912:flank left of the region;16p13.11_BP1-BP3_R:19002480-19102480:flank right of the region . pooled flanks 2 0 . . . 8 1.5 round:0.3 . . bedcov cn-depth cnvpytor:cnvs . 16p13.11_BP1-BP4 interval chr16 16p13.11_BP1-BP4_t1:15030912-15062395:16p13.11 recurrent region (BP1-BP4) (includes MYH11);16p13.11_BP1-BP4_t2:15417853-15808131;16p13.11_BP1-BP4_t3:15808131-16198409;16p13.11_BP1-BP4_t4:16762938-17093166;16p13.11_BP1-BP4_t5:17096423-17584983;16p13.11_BP1-BP4_t6:17584983-18073542 16p13.11_BP1-BP4_L:14580912-14680912:flank left of the region;16p13.11_BP1-BP4_R:19002480-19102480:flank right of the region . pooled flanks 2 0 . . . 8 1.5 round:0.3 . . bedcov cn-depth cnvpytor:cnvs . 16p13.11_BP2-BP3 interval chr16 16p13.11_BP2-BP3_t1:15417854-15808131:16p13.11 recurrent region (BP2-BP3) (includes MYH11);16p13.11_BP2-BP3_t2:15808131-16198408 16p13.11_BP2-BP3_L:14580912-14680912:flank left of the region;16p13.11_BP2-BP3_R:19002480-19102480:flank right of the region . pooled flanks 2 0 . . . 8 1.5 round:0.3 . . bedcov cn-depth cnvpytor:cnvs . 16p13.11_BP2-BP4 interval chr16 16p13.11_BP2-BP4_t1:15417855-15808132:16p13.11 recurrent region (BP2-BP4) (includes MYH11);16p13.11_BP2-BP4_t2:15808132-16198409;16p13.11_BP2-BP4_t3:16762938-17093166;16p13.11_BP2-BP4_t4:17096423-17584983;16p13.11_BP2-BP4_t5:17584983-18073542 16p13.11_BP2-BP4_L:14580912-14680912:flank left of the region;16p13.11_BP2-BP4_R:19002480-19102480:flank right of the region . pooled flanks 2 0 . . . 8 1.5 round:0.3 . . bedcov cn-depth cnvpytor:cnvs . 16p12.3_BP3-BP4 interval chr16 16p12.3_BP3-BP4_t1:16762939-17093166:16p12.3 recurrent region (BP3-BP4) (includes XYLT1);16p12.3_BP3-BP4_t2:17096423-17584983;16p12.3_BP3-BP4_t3:17584983-18073542 16p12.3_BP3-BP4_L:14580912-14680912:flank left of the region;16p12.3_BP3-BP4_R:19002480-19102480:flank right of the region . pooled flanks 2 0 . . . 8 1.5 round:0.3 . . bedcov cn-depth cnvpytor:cnvs . 16p12.2_distal_BP1-BP2 interval chr16 16p12.2_distal_BP1-BP2_t1:21558792-21728000:16p12.2 recurrent region (distal, BP1-BP2) (includes OTOA) 16p12.2_distal_BP1-BP2_L:21192540-21292540:flank left of the region;16p12.2_distal_BP1-BP2_R:30393459-30493459:flank right of the region . pooled flanks 2 0 . . . 8 1.5 round:0.3 . . bedcov cn-depth cnvpytor:cnvs . 16p12.2p11.2 interval chr16 16p12.2p11.2_t1:21558793-21728000:16p12.2p11.2 recurrent region (includes PALB2);16p12.2p11.2_t2:21937123-22419484;16p12.2p11.2_t3:22613938-22833211;16p12.2p11.2_t4:22834242-23166943;16p12.2p11.2_t5:23166943-23499643;16p12.2p11.2_t6:23500829-23501557;16p12.2p11.2_t7:23503728-23667041;16p12.2p11.2_t8:23669861-24115761;16p12.2p11.2_t9:24115761-24561661;16p12.2p11.2_t10:24561661-25007561;16p12.2p11.2_t11:25007561-25453458;16p12.2p11.2_t12:25454717-25743210;16p12.2p11.2_t13:25743210-26031702;16p12.2p11.2_t14:26032921-26111401;16p12.2p11.2_t15:26112444-26452694;16p12.2p11.2_t16:26452694-26792944;16p12.2p11.2_t17:26792944-27133194;16p12.2p11.2_t18:27135251-27503334;16p12.2p11.2_t19:27503334-27871417;16p12.2p11.2_t20:27871417-28239498;16p12.2p11.2_t21:28240648-28327647;16p12.2p11.2_t22:28471892-28590812;16p12.2p11.2_t23:28811313-29035179;16p12.2p11.2_t24:29126773-29127492;16p12.2p11.2_t25:29302873-29303936 16p12.2p11.2_L:21192540-21292540:flank left of the region;16p12.2p11.2_R:30393459-30493459:flank right of the region . pooled flanks 2 0 . . . 8 1.5 round:0.3 . . bedcov cn-depth cnvpytor:cnvs . 16p12.2_proximal_BP2-BP3 interval chr16 16p12.2_proximal_BP2-BP3_t1:21937124-22419483:16p12.2 recurrent region (proximal, BP2-BP3) (includes EEF2K, CDR2) 16p12.2_proximal_BP2-BP3_L:21192540-21292540:flank left of the region;16p12.2_proximal_BP2-BP3_R:30393459-30493459:flank right of the region . pooled flanks 2 0 . . . 8 1.5 round:0.3 . . bedcov cn-depth cnvpytor:cnvs . 16p11.2_distal_BP1-BP3 interval chr16 16p11.2_distal_BP1-BP3_t1:28471894-28590812:16p11.2 recurrent region (distal, BP1-BP3) (includes SH2B1);16p11.2_distal_BP1-BP3_t2:28811313-29035178 16p11.2_distal_BP1-BP3_L:21192540-21292540:flank left of the region;16p11.2_distal_BP1-BP3_R:30393459-30493459:flank right of the region . pooled flanks 2 0 . . . 8 1.5 round:0.3 . . bedcov cn-depth cnvpytor:cnvs . 16p11.2_proximal_BP1-BP4 interval chr16 16p11.2_proximal_BP1-BP4_t1:28471894-28590812:16p11.2 recurrent region (proximal, BP1-BP4) (includes SH2B1);16p11.2_proximal_BP1-BP4_t2:28811313-29035179;16p11.2_proximal_BP1-BP4_t3:29126773-29127492;16p11.2_proximal_BP1-BP4_t4:29302873-29303936 16p11.2_proximal_BP1-BP4_L:21192540-21292540:flank left of the region;16p11.2_proximal_BP1-BP4_R:30393459-30493459:flank right of the region . pooled flanks 2 0 . . . 8 1.5 round:0.3 . . bedcov cn-depth cnvpytor:cnvs . 16p11.2_proximal_and_distal_BP1-BP5 interval chr16 16p11.2_proximal_and_distal_BP1-BP5_t1:28471894-28590812:16p11.2 recurrent region (proximal and distal, BP1-BP5) (includes SH2B1 and TBX6);16p11.2_proximal_and_distal_BP1-BP5_t2:28811313-29035179;16p11.2_proximal_and_distal_BP1-BP5_t3:29126773-29127492;16p11.2_proximal_and_distal_BP1-BP5_t4:29302873-29303936;16p11.2_proximal_and_distal_BP1-BP5_t5:29638675-29903564;16p11.2_proximal_and_distal_BP1-BP5_t6:29903564-30168453;16p11.2_proximal_and_distal_BP1-BP5_t7:30170912-30188531 16p11.2_proximal_and_distal_BP1-BP5_L:21192540-21292540:flank left of the region;16p11.2_proximal_and_distal_BP1-BP5_R:30393459-30493459:flank right of the region . pooled flanks 2 0 . . . 8 1.5 round:0.3 . . bedcov cn-depth cnvpytor:cnvs . 16p11.2_distal_BP2-BP3 interval chr16 16p11.2_distal_BP2-BP3_t1:28811314-29035178:16p11.2 recurrent region (distal, BP2-BP3) (includes SH2B1) 16p11.2_distal_BP2-BP3_L:21192540-21292540:flank left of the region;16p11.2_distal_BP2-BP3_R:30393459-30493459:flank right of the region . pooled flanks 2 0 . . . 8 1.5 round:0.3 . . bedcov cn-depth cnvpytor:cnvs . 16p11.2_proximal_BP4-BP5 interval chr16 16p11.2_proximal_BP4-BP5_t1:29638676-29903565:16p11.2 recurrent region (proximal, BP4-BP5) (includes TBX6);16p11.2_proximal_BP4-BP5_t2:29903565-30168453;16p11.2_proximal_BP4-BP5_t3:30170912-30188531 16p11.2_proximal_BP4-BP5_L:21192540-21292540:flank left of the region;16p11.2_proximal_BP4-BP5_R:30393459-30493459:flank right of the region . pooled flanks 2 0 . . . 8 1.5 round:0.3 . . bedcov cn-depth cnvpytor:cnvs . 17p12_HNPP_CMT1A interval chr17 17p12_HNPP_CMT1A_t1:14194700-14230542:17p12 recurrent (HNPP/CMT1A) region (includes PMP22);17p12_HNPP_CMT1A_t2:14241379-14667253;17p12_HNPP_CMT1A_t3:14667253-15093127;17p12_HNPP_CMT1A_t4:15093127-15519000 17p12_HNPP_CMT1A_L:13869962-13969962:flank left of the region;17p12_HNPP_CMT1A_R:15930698-16030698:flank right of the region . pooled flanks 2 0 . . . 8 1.5 round:0.3 . . bedcov cn-depth cnvpytor:cnvs . 17p11.2_SMS_PLS interval chr17 17p11.2_SMS_PLS_t1:16906714-16935461:17p11.2 recurrent (SMS/PLS) region (includes RAI1);17p11.2_SMS_PLS_t2:16935702-16995496;17p11.2_SMS_PLS_t3:17031424-17463581;17p11.2_SMS_PLS_t4:17463581-17895738;17p11.2_SMS_PLS_t5:17895738-18327894;17p11.2_SMS_PLS_t6:18329376-18375628;17p11.2_SMS_PLS_t7:18848096-19020655;17p11.2_SMS_PLS_t8:19237509-19282949;17p11.2_SMS_PLS_t9:19284122-19581999;17p11.2_SMS_PLS_t10:19583330-19587402;17p11.2_SMS_PLS_t11:19588723-19598547;17p11.2_SMS_PLS_t12:19601764-19856686;17p11.2_SMS_PLS_t13:19856686-20111608;17p11.2_SMS_PLS_t14:20115149-20233524;17p11.2_SMS_PLS_t15:20235188-20309889 17p11.2_SMS_PLS_L:16486272-16586272:flank left of the region;17p11.2_SMS_PLS_R:20986981-21086981:flank right of the region . pooled flanks 2 0 . . . 8 1.5 round:0.3 . . bedcov cn-depth cnvpytor:cnvs . 17p11.2_REPD-REPM interval chr17 17p11.2_REPD-REPM_t1:16906715-16935461:17p11.2 recurrent region (REPD-REPM) (includes RAI1);17p11.2_REPD-REPM_t2:16935702-16995496;17p11.2_REPD-REPM_t3:17031424-17463581;17p11.2_REPD-REPM_t4:17463581-17895738;17p11.2_REPD-REPM_t5:17895738-18327894;17p11.2_REPD-REPM_t6:18329376-18375627 17p11.2_REPD-REPM_L:16486272-16586272:flank left of the region;17p11.2_REPD-REPM_R:20986981-21086981:flank right of the region . pooled flanks 2 0 . . . 8 1.5 round:0.3 . . bedcov cn-depth cnvpytor:cnvs . 17q11.2_Type_1_REPA-REPC interval chr17 17q11.2_Type_1_REPA-REPC_t1:30780078-31008336:17q11.2 recurrent region (Type 1, REPA-REPC) (includes NF1);17q11.2_Type_1_REPA-REPC_t2:31051210-31067523;17q11.2_Type_1_REPA-REPC_t3:31072877-31078593;17q11.2_Type_1_REPA-REPC_t4:31080033-31138282;17q11.2_Type_1_REPA-REPC_t5:31149888-31189463;17q11.2_Type_1_REPA-REPC_t6:31191722-31193317;17q11.2_Type_1_REPA-REPC_t7:31202173-31212016;17q11.2_Type_1_REPA-REPC_t8:31236747-31256172;17q11.2_Type_1_REPA-REPC_t9:31268283-31345374;17q11.2_Type_1_REPA-REPC_t10:31348726-31642514;17q11.2_Type_1_REPA-REPC_t11:31642514-31936301 17q11.2_Type_1_REPA-REPC_L:30380647-30480647:flank left of the region;17q11.2_Type_1_REPA-REPC_R:32170047-32270047:flank right of the region . pooled flanks 2 0 . . . 8 1.5 round:0.3 . . bedcov cn-depth cnvpytor:cnvs . 17q11.2_Type_2_SUZ12P1-SUZ12 interval chr17 17q11.2_Type_2_SUZ12P1-SUZ12_t1:30780079-31008336:17q11.2 recurrent region (Type 2, SUZ12P1-SUZ12) (includes NF1);17q11.2_Type_2_SUZ12P1-SUZ12_t2:31051210-31067523;17q11.2_Type_2_SUZ12P1-SUZ12_t3:31072877-31078593;17q11.2_Type_2_SUZ12P1-SUZ12_t4:31080033-31138282;17q11.2_Type_2_SUZ12P1-SUZ12_t5:31149888-31189463;17q11.2_Type_2_SUZ12P1-SUZ12_t6:31191722-31193317;17q11.2_Type_2_SUZ12P1-SUZ12_t7:31202173-31212016;17q11.2_Type_2_SUZ12P1-SUZ12_t8:31236747-31256172;17q11.2_Type_2_SUZ12P1-SUZ12_t9:31268283-31345374;17q11.2_Type_2_SUZ12P1-SUZ12_t10:31348726-31642514;17q11.2_Type_2_SUZ12P1-SUZ12_t11:31642514-31936301 17q11.2_Type_2_SUZ12P1-SUZ12_L:30380647-30480647:flank left of the region;17q11.2_Type_2_SUZ12P1-SUZ12_R:32170047-32270047:flank right of the region . pooled flanks 2 0 . . . 8 1.5 round:0.3 . . bedcov cn-depth cnvpytor:cnvs . 17q11.2_Type_3_REPB-REPC interval chr17 17q11.2_Type_3_REPB-REPC_t1:31051211-31067523:17q11.2 recurrent region- (Type 3, REPB-REPC) (includes NF1);17q11.2_Type_3_REPB-REPC_t2:31072877-31078593;17q11.2_Type_3_REPB-REPC_t3:31080033-31138282;17q11.2_Type_3_REPB-REPC_t4:31149888-31189463;17q11.2_Type_3_REPB-REPC_t5:31191722-31193317;17q11.2_Type_3_REPB-REPC_t6:31202173-31212016;17q11.2_Type_3_REPB-REPC_t7:31236747-31256172;17q11.2_Type_3_REPB-REPC_t8:31268283-31345374;17q11.2_Type_3_REPB-REPC_t9:31348726-31642514;17q11.2_Type_3_REPB-REPC_t10:31642514-31936301 17q11.2_Type_3_REPB-REPC_L:30380647-30480647:flank left of the region;17q11.2_Type_3_REPB-REPC_R:32170047-32270047:flank right of the region . pooled flanks 2 0 . . . 8 1.5 round:0.3 . . bedcov cn-depth cnvpytor:cnvs . 17q12_RCAD_syndrome interval chr17 17q12_RCAD_syndrome_t1:36458167-36800704:17q12 recurrent (RCAD syndrome) region (includes HNF1B);17q12_RCAD_syndrome_t2:36800704-37143240;17q12_RCAD_syndrome_t3:37144370-37488620;17q12_RCAD_syndrome_t4:37488620-37832870;17q12_RCAD_syndrome_t5:37836264-37854616 17q12_RCAD_syndrome_L:35818633-35918633:flank left of the region;17q12_RCAD_syndrome_R:38364969-38464969:flank right of the region . pooled flanks 2 0 . . . 8 1.5 round:0.3 . . bedcov cn-depth cnvpytor:cnvs . 17q21.31 interval chr17 17q21.31_t1:45627800-46087514:17q21.31 recurrent (KdVS region (includes KANSL1) 17q21.31_L:45264926-45364926:flank left of the region;17q21.31_R:46757124-46857124:flank right of the region . pooled flanks 2 0 . . . 8 1.5 round:0.3 . . bedcov cn-depth cnvpytor:cnvs . 17q23.1q23.2 interval chr17 17q23.1q23.2_t1:60035641-60096247:17q23.1q23.2 recurrent region (includes TBX2, TBX4);17q23.1q23.2_t2:60127341-60166682;17q23.1q23.2_t3:60171137-60172722;17q23.1q23.2_t4:60221224-60374694;17q23.1q23.2_t5:60382053-60434344;17q23.1q23.2_t6:60435541-60851263;17q23.1q23.2_t7:60852649-61301249;17q23.1q23.2_t8:61301249-61749849;17q23.1q23.2_t9:61749849-62198448 17q23.1q23.2_L:59771943-59871943:flank left of the region;17q23.1q23.2_R:62618463-62718463:flank right of the region . pooled flanks 2 0 . . . 8 1.5 round:0.3 . . bedcov cn-depth cnvpytor:cnvs . 22q11.21_CES interval chr22 22q11.21_CES_t1:16912063-16922834:22q11.21 recurrent (CES) region (includes CECR2);22q11.21_CES_t2:16928158-17014088;22q11.21_CES_t3:17038567-17214090;22q11.21_CES_t4:17215248-17419415;22q11.21_CES_t5:17420675-17763709;22q11.21_CES_t6:17765328-17984579;22q11.21_CES_t7:17998239-18008719;22q11.21_CES_t8:18010388-18159723 22q11.21_CES_R:24773137-24873137:flank right of the region . pooled flanks 2 0 . . . 8 1.5 round:0.3 . . bedcov cn-depth cnvpytor:cnvs . 22q11.2_DGS_proximal_A-B interval chr22 22q11.2_DGS_proximal_A-B_t1:18939750-18950240:22q11.2 recurrent (DGS) region (proximal, A-B) (includes TBX1);22q11.2_DGS_proximal_A-B_t2:18976730-18977700;22q11.2_DGS_proximal_A-B_t3:18981974-18999690;22q11.2_DGS_proximal_A-B_t4:19015209-19023255;22q11.2_DGS_proximal_A-B_t5:19035499-19404012;22q11.2_DGS_proximal_A-B_t6:19404012-19772525;22q11.2_DGS_proximal_A-B_t7:19772525-20141036;22q11.2_DGS_proximal_A-B_t8:20166817-20262035;22q11.2_DGS_proximal_A-B_t9:20290267-20299685 22q11.2_DGS_proximal_A-B_R:24773137-24873137:flank right of the region . pooled flanks 2 0 . . . 8 1.5 round:0.3 . . bedcov cn-depth cnvpytor:cnvs . 22q11.2_DGS_proximal_A-C interval chr22 22q11.2_DGS_proximal_A-C_t1:18939750-18950240:22q11.2 recurrent (DGS) region (proximal, A-C) (includes TBX1);22q11.2_DGS_proximal_A-C_t2:18976730-18977700;22q11.2_DGS_proximal_A-C_t3:18981974-18999690;22q11.2_DGS_proximal_A-C_t4:19015209-19023255;22q11.2_DGS_proximal_A-C_t5:19035499-19404012;22q11.2_DGS_proximal_A-C_t6:19404012-19772525;22q11.2_DGS_proximal_A-C_t7:19772525-20141036;22q11.2_DGS_proximal_A-C_t8:20166817-20262035;22q11.2_DGS_proximal_A-C_t9:20290267-20299686;22q11.2_DGS_proximal_A-C_t10:20377695-20388431;22q11.2_DGS_proximal_A-C_t11:20390146-20451509;22q11.2_DGS_proximal_A-C_t12:20453240-20482745;22q11.2_DGS_proximal_A-C_t13:20484148-20656624;22q11.2_DGS_proximal_A-C_t14:20658941-20667579 22q11.2_DGS_proximal_A-C_R:24773137-24873137:flank right of the region . pooled flanks 2 0 . . . 8 1.5 round:0.3 . . bedcov cn-depth cnvpytor:cnvs . 22q11.2_DGS_proximal_A-D interval chr22 22q11.2_DGS_proximal_A-D_t1:18939750-18950240:22q11.2 recurrent (DGS) region (proximal, A-D) (includes TBX1);22q11.2_DGS_proximal_A-D_t2:18976730-18977700;22q11.2_DGS_proximal_A-D_t3:18981974-18999690;22q11.2_DGS_proximal_A-D_t4:19015209-19023255;22q11.2_DGS_proximal_A-D_t5:19035499-19404012;22q11.2_DGS_proximal_A-D_t6:19404012-19772525;22q11.2_DGS_proximal_A-D_t7:19772525-20141036;22q11.2_DGS_proximal_A-D_t8:20166817-20262035;22q11.2_DGS_proximal_A-D_t9:20290267-20299686;22q11.2_DGS_proximal_A-D_t10:20377695-20388431;22q11.2_DGS_proximal_A-D_t11:20390146-20451509;22q11.2_DGS_proximal_A-D_t12:20453240-20482745;22q11.2_DGS_proximal_A-D_t13:20484148-20656624;22q11.2_DGS_proximal_A-D_t14:20658941-20667580;22q11.2_DGS_proximal_A-D_t15:20738049-21010365;22q11.2_DGS_proximal_A-D_t16:21018352-21042050;22q11.2_DGS_proximal_A-D_t17:21050489-21057379;22q11.2_DGS_proximal_A-D_t18:21062735-21111383 22q11.2_DGS_proximal_A-D_R:24773137-24873137:flank right of the region . pooled flanks 2 0 . . . 8 1.5 round:0.3 . . bedcov cn-depth cnvpytor:cnvs . 22q11.2_central_B-D interval chr22 22q11.2_central_B-D_t1:20377696-20388431:22q11.2 recurrent region (central, B-D) (includes CRKL);22q11.2_central_B-D_t2:20390146-20451509;22q11.2_central_B-D_t3:20453240-20482745;22q11.2_central_B-D_t4:20484148-20656624;22q11.2_central_B-D_t5:20658941-20667580;22q11.2_central_B-D_t6:20738049-21010365;22q11.2_central_B-D_t7:21018352-21042050;22q11.2_central_B-D_t8:21050489-21057379;22q11.2_central_B-D_t9:21062735-21111383 22q11.2_central_B-D_R:24773137-24873137:flank right of the region . pooled flanks 2 0 . . . 8 1.5 round:0.3 . . bedcov cn-depth cnvpytor:cnvs . 22q11.2_central_C-D interval chr22 22q11.2_central_C-D_t1:20738050-21010365:22q11.2 recurrent region (central, C-D) (includes CRKL);22q11.2_central_C-D_t2:21018352-21042050;22q11.2_central_C-D_t3:21050489-21057379;22q11.2_central_C-D_t4:21062735-21111383 22q11.2_central_C-D_R:24773137-24873137:flank right of the region . pooled flanks 2 0 . . . 8 1.5 round:0.3 . . bedcov cn-depth cnvpytor:cnvs . 22q11.2_C-E interval chr22 22q11.2_C-E_t1:20738051-21010365:22q11.2 recurrent region (C-E) (includes CRKL);22q11.2_C-E_t2:21018352-21042050;22q11.2_C-E_t3:21050489-21057379;22q11.2_C-E_t4:21062735-21111384;22q11.2_C-E_t5:21562827-21954496;22q11.2_C-E_t6:21958494-22114615;22q11.2_C-E_t7:22120610-22122809;22q11.2_C-E_t8:22125415-22125942;22q11.2_C-E_t9:22126195-22133984;22q11.2_C-E_t10:22139837-22220568;22q11.2_C-E_t11:22224566-22249758;22q11.2_C-E_t12:22315122-22320797;22q11.2_C-E_t13:22327981-22402552;22q11.2_C-E_t14:22410447-22620607 22q11.2_C-E_R:24773137-24873137:flank right of the region . pooled flanks 2 0 . . . 8 1.5 round:0.3 . . bedcov cn-depth cnvpytor:cnvs . 22q11.2_distal_type_I_D-E interval chr22 22q11.2_distal_type_I_D-E_t1:21562828-21954496:22q11.2 recurrent region (distal type I, D-E);22q11.2_distal_type_I_D-E_t2:21958494-22114615;22q11.2_distal_type_I_D-E_t3:22120610-22122809;22q11.2_distal_type_I_D-E_t4:22125415-22125942;22q11.2_distal_type_I_D-E_t5:22126195-22133984;22q11.2_distal_type_I_D-E_t6:22139837-22220568;22q11.2_distal_type_I_D-E_t7:22224566-22249758;22q11.2_distal_type_I_D-E_t8:22315122-22320797;22q11.2_distal_type_I_D-E_t9:22327981-22402552;22q11.2_distal_type_I_D-E_t10:22410447-22620607 22q11.2_distal_type_I_D-E_R:24773137-24873137:flank right of the region . pooled flanks 2 0 . . . 8 1.5 round:0.3 . . bedcov cn-depth cnvpytor:cnvs . 22q11.2_distal_type_I_D-F interval chr22 22q11.2_distal_type_I_D-F_t1:21562828-21954496:22q11.2 recurrent region (distal type I, D-F);22q11.2_distal_type_I_D-F_t2:21958494-22114615;22q11.2_distal_type_I_D-F_t3:22120610-22122809;22q11.2_distal_type_I_D-F_t4:22125415-22125942;22q11.2_distal_type_I_D-F_t5:22126195-22133984;22q11.2_distal_type_I_D-F_t6:22139837-22220568;22q11.2_distal_type_I_D-F_t7:22224566-22249758;22q11.2_distal_type_I_D-F_t8:22315122-22320797;22q11.2_distal_type_I_D-F_t9:22327981-22402552;22q11.2_distal_type_I_D-F_t10:22410447-22620608;22q11.2_distal_type_I_D-F_t11:22776923-22789775;22q11.2_distal_type_I_D-F_t12:22794414-22820054;22q11.2_distal_type_I_D-F_t13:22823467-22897363;22q11.2_distal_type_I_D-F_t14:22901536-22902711;22q11.2_distal_type_I_D-F_t15:22906902-23263953;22q11.2_distal_type_I_D-F_t16:23264988-23306924 22q11.2_distal_type_I_D-F_R:24773137-24873137:flank right of the region . pooled flanks 2 0 . . . 8 1.5 round:0.3 . . bedcov cn-depth cnvpytor:cnvs . 22q11.2_distal_type_III_D-H interval chr22 22q11.2_distal_type_III_D-H_t1:21562828-21954496:22q11.2 recurrent region (distal type III, D-H) (includes SMARCB1);22q11.2_distal_type_III_D-H_t2:21958494-22114615;22q11.2_distal_type_III_D-H_t3:22120610-22122809;22q11.2_distal_type_III_D-H_t4:22125415-22125942;22q11.2_distal_type_III_D-H_t5:22126195-22133984;22q11.2_distal_type_III_D-H_t6:22139837-22220568;22q11.2_distal_type_III_D-H_t7:22224566-22249758;22q11.2_distal_type_III_D-H_t8:22315122-22320797;22q11.2_distal_type_III_D-H_t9:22327981-22402552;22q11.2_distal_type_III_D-H_t10:22410447-22620608;22q11.2_distal_type_III_D-H_t11:22776923-22789775;22q11.2_distal_type_III_D-H_t12:22794414-22820054;22q11.2_distal_type_III_D-H_t13:22823467-22897363;22q11.2_distal_type_III_D-H_t14:22901536-22902711;22q11.2_distal_type_III_D-H_t15:22906902-23263953;22q11.2_distal_type_III_D-H_t16:23264988-23306925;22q11.2_distal_type_III_D-H_t17:23489014-23493585;22q11.2_distal_type_III_D-H_t18:23510388-23511082;22q11.2_distal_type_III_D-H_t19:23552138-23553526;22q11.2_distal_type_III_D-H_t20:23577255-23594547;22q11.2_distal_type_III_D-H_t21:23602870-23616462;22q11.2_distal_type_III_D-H_t22:23644932-23658595;22q11.2_distal_type_III_D-H_t23:23661000-23670225;22q11.2_distal_type_III_D-H_t24:23679116-23734856;22q11.2_distal_type_III_D-H_t25:23737374-23853822;22q11.2_distal_type_III_D-H_t26:23856326-23929519;22q11.2_distal_type_III_D-H_t27:23932056-23939932;22q11.2_distal_type_III_D-H_t28:23970000-23971773;22q11.2_distal_type_III_D-H_t29:24001392-24179310;22q11.2_distal_type_III_D-H_t30:24184938-24236854;22q11.2_distal_type_III_D-H_t31:24301118-24310536;22q11.2_distal_type_III_D-H_t32:24314778-24377585;22q11.2_distal_type_III_D-H_t33:24389259-24598466 22q11.2_distal_type_III_D-H_R:24773137-24873137:flank right of the region . pooled flanks 2 0 . . . 8 1.5 round:0.3 . . bedcov cn-depth cnvpytor:cnvs . 22q11.2_distal_type_III_D-G interval chr22 22q11.2_distal_type_III_D-G_t1:21562829-21954496:22q11.2 recurrent region (distal type III D-G) (includes SMARCB1);22q11.2_distal_type_III_D-G_t2:21958494-22114615;22q11.2_distal_type_III_D-G_t3:22120610-22122809;22q11.2_distal_type_III_D-G_t4:22125415-22125942;22q11.2_distal_type_III_D-G_t5:22126195-22133984;22q11.2_distal_type_III_D-G_t6:22139837-22220568;22q11.2_distal_type_III_D-G_t7:22224566-22249758;22q11.2_distal_type_III_D-G_t8:22315122-22320797;22q11.2_distal_type_III_D-G_t9:22327981-22402552;22q11.2_distal_type_III_D-G_t10:22410447-22620608;22q11.2_distal_type_III_D-G_t11:22776923-22789775;22q11.2_distal_type_III_D-G_t12:22794414-22820054;22q11.2_distal_type_III_D-G_t13:22823467-22897363;22q11.2_distal_type_III_D-G_t14:22901536-22902711;22q11.2_distal_type_III_D-G_t15:22906902-23263953;22q11.2_distal_type_III_D-G_t16:23264988-23306925;22q11.2_distal_type_III_D-G_t17:23489014-23493585;22q11.2_distal_type_III_D-G_t18:23510388-23511082;22q11.2_distal_type_III_D-G_t19:23552138-23553526;22q11.2_distal_type_III_D-G_t20:23577255-23594547;22q11.2_distal_type_III_D-G_t21:23602870-23616462;22q11.2_distal_type_III_D-G_t22:23644932-23658595;22q11.2_distal_type_III_D-G_t23:23661000-23670225;22q11.2_distal_type_III_D-G_t24:23679116-23734856;22q11.2_distal_type_III_D-G_t25:23737374-23853822;22q11.2_distal_type_III_D-G_t26:23856326-23929519;22q11.2_distal_type_III_D-G_t27:23932056-23939932;22q11.2_distal_type_III_D-G_t28:23970000-23971773;22q11.2_distal_type_III_D-G_t29:24001392-24179310;22q11.2_distal_type_III_D-G_t30:24184938-24236853 22q11.2_distal_type_III_D-G_R:24773137-24873137:flank right of the region . pooled flanks 2 0 . . . 8 1.5 round:0.3 . . bedcov cn-depth cnvpytor:cnvs . 22q11.2_distal_type_II_E-F interval chr22 22q11.2_distal_type_II_E-F_t1:22776924-22789775:22q11.2 recurrent region (distal type II, E-F);22q11.2_distal_type_II_E-F_t2:22794414-22820054;22q11.2_distal_type_II_E-F_t3:22823467-22897363;22q11.2_distal_type_II_E-F_t4:22901536-22902711;22q11.2_distal_type_II_E-F_t5:22906902-23263953;22q11.2_distal_type_II_E-F_t6:23264988-23306924 22q11.2_distal_type_II_E-F_R:24773137-24873137:flank right of the region . pooled flanks 2 0 . . . 8 1.5 round:0.3 . . bedcov cn-depth cnvpytor:cnvs . 22q11.2_distal_type_III_E-H interval chr22 22q11.2_distal_type_III_E-H_t1:22776925-22789775:22q11.2 recurrent region (distal type III E-H) (includes SMARCB1);22q11.2_distal_type_III_E-H_t2:22794414-22820054;22q11.2_distal_type_III_E-H_t3:22823467-22897363;22q11.2_distal_type_III_E-H_t4:22901536-22902711;22q11.2_distal_type_III_E-H_t5:22906902-23263953;22q11.2_distal_type_III_E-H_t6:23264988-23306925;22q11.2_distal_type_III_E-H_t7:23489014-23493585;22q11.2_distal_type_III_E-H_t8:23510388-23511082;22q11.2_distal_type_III_E-H_t9:23552138-23553526;22q11.2_distal_type_III_E-H_t10:23577255-23594547;22q11.2_distal_type_III_E-H_t11:23602870-23616462;22q11.2_distal_type_III_E-H_t12:23644932-23658595;22q11.2_distal_type_III_E-H_t13:23661000-23670225;22q11.2_distal_type_III_E-H_t14:23679116-23734856;22q11.2_distal_type_III_E-H_t15:23737374-23853822;22q11.2_distal_type_III_E-H_t16:23856326-23929519;22q11.2_distal_type_III_E-H_t17:23932056-23939932;22q11.2_distal_type_III_E-H_t18:23970000-23971773;22q11.2_distal_type_III_E-H_t19:24001392-24179310;22q11.2_distal_type_III_E-H_t20:24184938-24236854;22q11.2_distal_type_III_E-H_t21:24301118-24310536;22q11.2_distal_type_III_E-H_t22:24314778-24377585;22q11.2_distal_type_III_E-H_t23:24389259-24598466 22q11.2_distal_type_III_E-H_R:24773137-24873137:flank right of the region . pooled flanks 2 0 . . . 8 1.5 round:0.3 . . bedcov cn-depth cnvpytor:cnvs . 22q11.2_distal_type_III_F-G interval chr22 22q11.2_distal_type_III_F-G_t1:23489015-23493585:22q11.2 recurrent region (distal type III, F-G) (includes SMARCB1);22q11.2_distal_type_III_F-G_t2:23510388-23511082;22q11.2_distal_type_III_F-G_t3:23552138-23553526;22q11.2_distal_type_III_F-G_t4:23577255-23594547;22q11.2_distal_type_III_F-G_t5:23602870-23616462;22q11.2_distal_type_III_F-G_t6:23644932-23658595;22q11.2_distal_type_III_F-G_t7:23661000-23670225;22q11.2_distal_type_III_F-G_t8:23679116-23734856;22q11.2_distal_type_III_F-G_t9:23737374-23853822;22q11.2_distal_type_III_F-G_t10:23856326-23929519;22q11.2_distal_type_III_F-G_t11:23932056-23939932;22q11.2_distal_type_III_F-G_t12:23970000-23971773;22q11.2_distal_type_III_F-G_t13:24001392-24179310;22q11.2_distal_type_III_F-G_t14:24184938-24236853 22q11.2_distal_type_III_F-G_R:24773137-24873137:flank right of the region . pooled flanks 2 0 . . . 8 1.5 round:0.3 . . bedcov cn-depth cnvpytor:cnvs . 22q11.2_distal_type_III_F-H interval chr22 22q11.2_distal_type_III_F-H_t1:23489016-23493585:22q11.2 recurrent region (distal type III F-H) (includes SMARCB1);22q11.2_distal_type_III_F-H_t2:23510388-23511082;22q11.2_distal_type_III_F-H_t3:23552138-23553526;22q11.2_distal_type_III_F-H_t4:23577255-23594547;22q11.2_distal_type_III_F-H_t5:23602870-23616462;22q11.2_distal_type_III_F-H_t6:23644932-23658595;22q11.2_distal_type_III_F-H_t7:23661000-23670225;22q11.2_distal_type_III_F-H_t8:23679116-23734856;22q11.2_distal_type_III_F-H_t9:23737374-23853822;22q11.2_distal_type_III_F-H_t10:23856326-23929519;22q11.2_distal_type_III_F-H_t11:23932056-23939932;22q11.2_distal_type_III_F-H_t12:23970000-23971773;22q11.2_distal_type_III_F-H_t13:24001392-24179310;22q11.2_distal_type_III_F-H_t14:24184938-24236854;22q11.2_distal_type_III_F-H_t15:24301118-24310536;22q11.2_distal_type_III_F-H_t16:24314778-24377585;22q11.2_distal_type_III_F-H_t17:24389259-24598466 22q11.2_distal_type_III_F-H_R:24773137-24873137:flank right of the region . pooled flanks 2 0 . . . 8 1.5 round:0.3 . . bedcov cn-depth cnvpytor:cnvs . Xp22.31 interval chrX Xp22.31_t1:6537771-6709739:Xp22.31 recurrent region (includes STS);Xp22.31_t2:6712094-6934350;Xp22.31_t3:6935400-7003885;Xp22.31_t4:7044785-7321723;Xp22.31_t5:7321723-7598660;Xp22.31_t6:7599946-7752196;Xp22.31_t7:7761567-7840853;Xp22.31_t8:7852088-7973686;Xp22.31_t9:7984426-8000352;Xp22.31_t10:8006947-8156913 Xp22.31_L:6377561-6477561:flank left of the region;Xp22.31_R:8231347-8331347:flank right of the region . pooled flanks 2 0 . . . 8 1.5 round:0.3 . . bedcov cn-depth cnvpytor:cnvs . Xp11.22p11.23 interval chrX Xp11.22p11.23_t1:48447780-48801813:Xp11.22p11.23 recurrent region (includes SHROOM4);Xp11.22p11.23_t2:48801813-49155846;Xp11.22p11.23_t3:49157442-49162798;Xp11.22p11.23_t4:49164374-49300509;Xp11.22p11.23_t5:49606699-49631626;Xp11.22p11.23_t6:49633394-49663751;Xp11.22p11.23_t7:49668689-49836185;Xp11.22p11.23_t8:49837392-49877729;Xp11.22p11.23_t9:49878948-50174945;Xp11.22p11.23_t10:50175512-50204972;Xp11.22p11.23_t11:50209960-50210790;Xp11.22p11.23_t12:50228964-50278964;Xp11.22p11.23_t13:50293964-50599659;Xp11.22p11.23_t14:50599659-50905354;Xp11.22p11.23_t15:50906368-50990225;Xp11.22p11.23_t16:50993330-50996121;Xp11.22p11.23_t17:51040256-51077839;Xp11.22p11.23_t18:51081476-51154075;Xp11.22p11.23_t19:51184010-51290913;Xp11.22p11.23_t20:51296426-51314554;Xp11.22p11.23_t21:51334611-51494772;Xp11.22p11.23_t22:51526125-51617596;Xp11.22p11.23_t23:51619037-51667324;Xp11.22p11.23_t24:51692963-51700363;Xp11.22p11.23_t25:51725664-51869486;Xp11.22p11.23_t26:51873046-51903394;Xp11.22p11.23_t27:51904535-51919767;Xp11.22p11.23_t28:51922376-52037052;Xp11.22p11.23_t29:52068673-52185421;Xp11.22p11.23_t30:52213786-52262297;Xp11.22p11.23_t31:52266091-52266756;Xp11.22p11.23_t32:52268901-52336321;Xp11.22p11.23_t33:52340891-52444264 Xp11.22p11.23_L:47703983-47803983:flank left of the region;Xp11.22p11.23_R:53026821-53126821:flank right of the region . pooled flanks 2 0 . . . 8 1.5 round:0.3 . . bedcov cn-depth cnvpytor:cnvs . Xq28 interval chrX Xq28_t1:154396223-154555683:Xq28 recurrent region (includes GDI1) Xq28_L:153905935-154005935:flank left of the region;Xq28_R:154704527-154804527:flank right of the region . pooled flanks 2 0 . . . 8 1.5 round:0.3 . . bedcov cn-depth cnvpytor:cnvs . Xq28_int22h1_int22h2-flanked interval chrX Xq28_int22h1_int22h2-flanked_t1:154890328-155006106:Xq28 recurrent region (int22h1/int22h2-flanked) (includes RAB39B);Xq28_int22h1_int22h2-flanked_t2:155007147-155147780;Xq28_int22h1_int22h2-flanked_t3:155148821-155288173;Xq28_int22h1_int22h2-flanked_t4:155291419-155304000;Xq28_int22h1_int22h2-flanked_t5:155304900-155335092 Xq28_int22h1_int22h2-flanked_L:154710814-154810814:flank left of the region;Xq28_int22h1_int22h2-flanked_R:155506728-155606728:flank right of the region . pooled flanks 2 0 . . . 8 1.5 round:0.3 . . bedcov cn-depth cnvpytor:cnvs . 1p36_terminal interval chr1 1p36_terminal_t1:898702-955921:1p36 terminal region (includes GABRD), ClinGen ISCA-37434;1p36_terminal_t2:960557-1075856;1p36_terminal_t3:1079032-1444514;1p36_terminal_t4:1448930-1464079;1p36_terminal_t5:1502033-1504522;1p36_terminal_t6:1534825-1632163;1p36_terminal_t7:1730936-1733195;1p36_terminal_t8:1752193-2150309;1p36_terminal_t9:2150309-2548425;1p36_terminal_t10:2550688-2551369;1p36_terminal_t11:2554047-2567635;1p36_terminal_t12:2570293-2576603;1p36_terminal_t13:2578586-2652036;1p36_terminal_t14:2702781-2746290;1p36_terminal_t15:2777361-3235654;1p36_terminal_t16:3235654-3693946;1p36_terminal_t17:3695002-3722655;1p36_terminal_t18:3723188-4043198;1p36_terminal_t19:4045223-4447638;1p36_terminal_t20:4447638-4850053;1p36_terminal_t21:4850053-5252468;1p36_terminal_t22:5252468-5654881;1p36_terminal_t23:5657240-5665835;1p36_terminal_t24:5673788-5929408;1p36_terminal_t25:5929408-6185028;1p36_terminal_t26:6186818-6229913 1p36_terminal_R:6279913-6379913:flank right of the region . pooled flanks 2 0 . . . 8 1.5 round:0.3 . . bedcov cn-depth cnvpytor:cnvs . Xq28_MECP2 interval chrX Xq28_MECP2_t1:154008528-154110279:Xq28 region (includes MECP2), ClinGen ISCA-46304: the MECP2 duplication Xq28_MECP2_L:153858528-153958528:flank left of the region;Xq28_MECP2_R:154660279-154760279:flank right of the region . pooled flanks 2 0 . . . 8 1.5 round:0.3 . . bedcov cn-depth cnvpytor:cnvs . GJB6_D13S1830 interval chr13 GJB6_D13S1830_t1:20223037-20531806:del(GJB6-D13S1830), ClinVar 5546 GJB6_D13S1830_L:20073037-20173037:flank left of the region;GJB6_D13S1830_R:20581806-20681806:flank right of the region . pooled flanks 2 0 . . . 8 1.5 round:0.3 . . bedcov cn-depth cnvpytor:cnvs 11807148 CFTR_dele2_3 interval chr7 CFTR_dele2_3_t1:117498312-117519392:CFTRdele2,3 (21 kb), ClinVar 66105 CFTR_dele2_3_L:117348312-117448312:flank left of the region;CFTR_dele2_3_R:117569392-117669392:flank right of the region . pooled flanks 2 0 . . . 8 1.5 round:0.3 . . bedcov cn-depth cnvpytor:cnvs . HBB_exon3_del interval chr11 HBB_exon3_del_t1:5225254-5225875:HBB deletion of exon 3 (621 bp), ClinVar 3769040 HBB_exon3_del_L:5075254-5175254:flank left of the region;HBB_exon3_del_R:5275875-5375875:flank right of the region . pooled flanks 2 0 . . . 8 1.5 round:0.3 . . bedcov cn-depth cnvpytor:cnvs . HBB_619bp_del interval chr11 HBB_619bp_del_t1:5225388-5226007:HBB 619 bp deletion (South Asian), HbVar 979 HBB_619bp_del_L:5075388-5175388:flank left of the region;HBB_619bp_del_R:5276007-5376007:flank right of the region . pooled flanks 2 0 . . . 8 1.5 round:0.3 . . bedcov cn-depth cnvpytor:cnvs 287080 HBD_HBB_Sicilian_del interval chr11 HBD_HBB_Sicilian_del_t1:5219877-5233280:Sicilian (delta-beta)0 deletion (13.4 kb, HBD to HBB 3'), HbVar 1035 HBD_HBB_Sicilian_del_L:5069877-5169877:flank left of the region;HBD_HBB_Sicilian_del_R:5283280-5383280:flank right of the region . pooled flanks 2 0 . . . 8 1.5 round:0.3 . . bedcov cn-depth cnvpytor:cnvs 2307466 AZFa interval chrY AZFa_t1:12537649-12860852:AZFa (USP9Y and DDX3Y);AZFa_t2:12904107-12920478:DDX3Y AZFa_c1:2935200-2982579:ZFY, single-copy control on Yp;AZFa_c2:14522572-14845654:NLGN4Y, single-copy control on Yq . pooled pooled 2 0 . . . 4 . round:0.3 . . bedcov cn-depth cnvpytor:cnvs 37674303 AZFb interval chrY AZFb_t1:19702297-19745148:AZFb (KDM5D and EIF1AY);AZFb_t2:20575693-20593154:EIF1AY AZFb_c1:2935200-2982579:ZFY, single-copy control on Yp;AZFb_c2:14522572-14845654:NLGN4Y, single-copy control on Yq . pooled pooled 2 0 . . . 4 . round:0.3 . . bedcov cn-depth cnvpytor:cnvs 37674303 AZFc_DAZ interval chrY AZFc_DAZ_t1:23129354-23199010:AZFc (DAZ1 to DAZ4 added up, gr/gr and b2/b3 leave two);AZFc_DAZ_t2:23219446-23291356:DAZ2;AZFc_DAZ_t3:24763068-24813492:DAZ3;AZFc_DAZ_t4:24833842-24907040:DAZ4 AZFc_DAZ_c1:2935200-2982579:ZFY, single-copy control on Yp;AZFc_DAZ_c2:14522572-14845654:NLGN4Y, single-copy control on Yq . sum pooled 2 0 . . . 4 . round:0.3 . . bedcov cn-depth cnvpytor:cnvs 37674303