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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv6314514complex chromosomal rearrangement3nstd102humanPathogenic GRCh37 chr7: 128,114,028-128,114,028 , GRCh37 chr19: 32,861,768-32,861,768 , GRCh37 chr19: 29,247,464-29,247,464 , GRCh37 chr19: 32,861,768-32,861,768 , GRCh37 chr7: 128,114,023-128,114,023 , GRCh37 chr19: 29,247,464-29,247,464 , GRCh38.p12 chr7: 128,473,969-128,473,969 , GRCh38.p12 chr19: 28,756,557-28,756,557 , GRCh38.p12 chr7: 128,473,974-128,473,974 , GRCh38.p12 chr19: 28,756,557-28,756,557 , GRCh38.p12 chr19: 32,370,862-32,370,862 , GRCh38.p12 chr19: 32,370,862-32,370,862 ZNF507
    nsv5674315delins1nstd102humanPathogenic GRCh37 chr22: 41,546,388-41,552,986 , GRCh38 chr22: 41,150,384-41,156,982 EP300
    nsv6314427complex chromosomal rearrangement2nstd102humanPathogenic GRCh37 chr18: 65,690,061-65,690,061 , GRCh37 chr18: 65,690,062-65,690,062 , GRCh38.p12 chr18: 68,022,824-68,022,824 , GRCh38.p12 chr18: 68,022,825-68,022,825 , GRCh37 chr3: 114,447,919-114,447,919 , GRCh37 chr3: 114,447,922-114,447,922 , GRCh38.p12 chr3: 114,729,072-114,729,072 , GRCh38.p12 chr3: 114,729,075-114,729,075 ZBTB20
    nsv6314238complex chromosomal rearrangement2nstd102humanPathogenic GRCh37 chr5: 11,420,640-11,420,640 , GRCh37 chr5: 11,420,650-11,420,650 , GRCh38.p12 chr5: 11,420,528-11,420,528 , GRCh38.p12 chr5: 11,420,538-11,420,538 , GRCh37 chr3: 147,428,507-147,428,507 , GRCh37 chr3: 147,428,516-147,428,516 , GRCh38.p12 chr3: 147,710,720-147,710,720 , GRCh38.p12 chr3: 147,710,729-147,710,729 CTNND2
    nsv6314805copy number variation2nstd102humanLikely pathogenic GRCh37 chr18: 67,742,144-67,746,740 , GRCh38 chr18: 70,074,908-70,079,504 RTTN
    nsv6314596complex chromosomal rearrangement3nstd102humanLikely pathogenic GRCh37 chr6: 137,570,833-137,570,833 , GRCh37 chr6: 140,836,347-140,836,347 , GRCh37 chr6: 137,570,833-137,570,833 , GRCh37 chr6: 140,836,347-140,836,347 , GRCh37 chr15: 72,791,701-72,791,701 , GRCh37 chr15: 72,859,898-72,859,898 , GRCh38.p12 chr15: 72,499,360-72,499,360 , GRCh38.p12 chr15: 72,567,557-72,567,557 , GRCh38.p12 chr6: 137,249,696-137,249,696 , GRCh38.p12 chr6: 140,515,210-140,515,210 , GRCh38.p12 chr6: 137,249,696-137,249,696 , GRCh38.p12 chr6: 140,515,210-140,515,210 ARIH1
    nsv6314371complex chromosomal rearrangement2nstd102humanLikely pathogenic GRCh37 chr5: 88,829,562-88,829,562 , GRCh37 chr5: 88,829,564-88,829,564 , GRCh38.p12 chr5: 89,533,745-89,533,745 , GRCh38.p12 chr5: 89,533,747-89,533,747 , GRCh38.p12 chr1: 85,691,448-85,691,448 , GRCh38.p12 chr1: 85,691,449-85,691,449 , GRCh37 chr1: 86,157,131-86,157,131 , GRCh37 chr1: 86,157,132-86,157,132 ZNHIT6
    nsv6314629complex chromosomal rearrangement2nstd102humanUncertain significance GRCh38.p12 chr9: 33,697,173-33,697,173 , GRCh38.p12 chr9: 33,697,181-33,697,181 , GRCh37 chr9: 33,697,171-33,697,171 , GRCh37 chr9: 33,697,179-33,697,179 , GRCh37 chrX: 16,848,016-16,848,016 , GRCh37 chrX: 16,848,017-16,848,017 , GRCh38.p12 chrX: 16,829,893-16,829,893 , GRCh38.p12 chrX: 16,829,894-16,829,894 TXLNG
    nsv6314612complex chromosomal rearrangement2nstd102humanUncertain significance GRCh38.p12 chr19: 38,472,137-38,472,137 , GRCh38.p12 chr19: 38,472,144-38,472,144 , GRCh37 chr19: 38,962,777-38,962,777 , GRCh37 chr19: 38,962,784-38,962,784 , GRCh38.p12 chr9: 96,045,206-96,045,206 , GRCh38.p12 chr9: 96,045,209-96,045,209 , GRCh37 chr9: 98,807,488-98,807,488 , GRCh37 chr9: 98,807,491-98,807,491 RYR1
    nsv6314573complex chromosomal rearrangement2nstd102humanUncertain significance GRCh38.p12 chr9: 63,838,723-63,838,723 , GRCh38.p12 chr9: 68,221,094-68,221,094 , GRCh38.p12 chr9: 201,090-201,090 , GRCh38.p12 chr9: 201,106-201,106 , GRCh37 chr9: 68,434,457-68,434,457 , GRCh37 chr9: 70,836,010-70,836,010 , GRCh37 chr9: 201,090-201,090 , GRCh37 chr9: 201,106-201,106 FRG1JP
    nsv6314485complex chromosomal rearrangement3nstd102humanUncertain significance GRCh37 chrX: 154,390,213-154,390,213 , GRCh37 chrX: 655,195-655,195 , GRCh37 chrX: 698,367-698,367 , GRCh37 chrX: 135,300,329-135,300,329 , GRCh37 chrX: 135,300,418-135,300,418 , GRCh37 chrX: 154,388,192-154,388,192 , GRCh38.p12 chrX: 694,460-694,460 , GRCh38.p12 chrX: 737,632-737,632 , GRCh38.p12 chrX: 136,218,170-136,218,170 , GRCh38.p12 chrX: 136,218,259-136,218,259 , GRCh38.p12 chrX: 155,159,917-155,159,917 , GRCh38.p12 chrX: 155,161,938-155,161,938 MAP7D3
    nsv6314434complex chromosomal rearrangement2nstd102humanUncertain significance GRCh38.p12 chr14: 64,254,366-64,254,366 , GRCh38.p12 chr14: 64,254,370-64,254,370 , GRCh38.p12 chr14: 94,572,549-94,572,549 , GRCh38.p12 chr14: 94,572,550-94,572,550 , GRCh37 chr14: 64,721,084-64,721,084 , GRCh37 chr14: 64,721,088-64,721,088 , GRCh37 chr14: 95,038,886-95,038,886 , GRCh37 chr14: 95,038,887-95,038,887 ESR2
    nsv6314419complex chromosomal rearrangement2nstd102humanUncertain significance GRCh37 chr18: 19,498,398-19,498,398 , GRCh37 chr18: 19,498,400-19,498,400 , GRCh38.p12 chr18: 21,918,437-21,918,437 , GRCh38.p12 chr18: 21,918,439-21,918,439 , GRCh37 chr3: 104,627,622-104,627,622 , GRCh37 chr3: 104,627,629-104,627,629 , GRCh38.p12 chr3: 104,908,778-104,908,778 , GRCh38.p12 chr3: 104,908,785-104,908,785 LOC107986108
    nsv6314403complex chromosomal rearrangement2nstd102humanUncertain significance GRCh38.p12 chr9: 97,384,977-97,384,977 , GRCh38.p12 chr9: 97,384,984-97,384,984 , GRCh38.p12 chr9: 126,472,931-126,472,931 , GRCh38.p12 chr9: 126,473,098-126,473,098 , GRCh37 chr9: 100,147,259-100,147,259 , GRCh37 chr9: 100,147,266-100,147,266 , GRCh37 chr9: 129,235,210-129,235,210 , GRCh37 chr9: 129,235,377-129,235,377 MVB12B
    nsv5381619copy number variation1nstd102humanPathogenic GRCh38 chr6: 35,238,018-35,239,873 , GRCh37 chr6: 35,205,795-35,207,650 SCUBE3-AS1, SCUBE3
    nsv6314609complex chromosomal rearrangement2nstd102humanPathogenic GRCh37 chr18: 52,909,152-52,909,152 , GRCh37 chr18: 52,909,158-52,909,158 , GRCh38.p12 chr18: 55,241,921-55,241,921 , GRCh38.p12 chr18: 55,241,927-55,241,927 , GRCh37 chr3: 118,271,920-118,271,920 , GRCh37 chr3: 118,271,923-118,271,923 , GRCh38.p12 chr3: 118,553,073-118,553,073 , GRCh38.p12 chr3: 118,553,076-118,553,076 TCF4, LOC105374060
    nsv6314597complex chromosomal rearrangement2nstd102humanPathogenic GRCh38.p12 chr19: 13,020,711-13,020,711 , GRCh38.p12 chr19: 13,023,836-13,023,836 , GRCh37 chr19: 13,131,525-13,131,525 , GRCh37 chr19: 13,134,650-13,134,650 , GRCh37 chr5: 162,651,347-162,651,347 , GRCh37 chr5: 162,659,654-162,659,654 , GRCh38.p12 chr5: 163,224,341-163,224,341 , GRCh38.p12 chr5: 163,232,648-163,232,648 NFIX, LOC105377700
    nsv6314478complex chromosomal rearrangement3nstd102humanPathogenic GRCh38.p12 chr13: 101,317,547-101,317,547 , GRCh38.p12 chr13: 101,321,256-101,321,256 , GRCh38.p12 chr13: 108,561,681-108,561,681 , GRCh38.p12 chr13: 108,561,710-108,561,710 , GRCh37 chr13: 101,969,898-101,969,898 , GRCh37 chr13: 101,973,607-101,973,607 , GRCh37 chr13: 109,214,029-109,214,029 , GRCh37 chr13: 109,214,058-109,214,058 , GRCh37 chr7: 49,277,729-49,277,729 , GRCh37 chr7: 49,277,887-49,277,887 , GRCh38.p12 chr7: 49,238,133-49,238,133 , GRCh38.p12 chr7: 49,238,291-49,238,291 MYO16, NALCN
    nsv6314422complex chromosomal rearrangement2nstd102humanPathogenic GRCh37 chr7: 47,072,804-47,072,804 , GRCh37 chr7: 47,131,857-47,131,857 , GRCh37 chr7: 69,405,740-69,405,740 , GRCh37 chr7: 69,443,921-69,443,921 , GRCh38.p12 chr7: 47,033,206-47,033,206 , GRCh38.p12 chr7: 47,092,259-47,092,259 , GRCh38.p12 chr7: 69,940,754-69,940,754 , GRCh38.p12 chr7: 69,978,935-69,978,935 AUTS2, LOC105375268
    nsv6314397complex chromosomal rearrangement2nstd102humanPathogenic GRCh38.p12 chr21: 37,404,661-37,404,661 , GRCh38.p12 chr21: 37,404,662-37,404,662 , GRCh37 chr21: 38,776,963-38,776,963 , GRCh37 chr21: 38,776,964-38,776,964 , GRCh38.p12 chr19: 38,649,916-38,649,916 , GRCh38.p12 chr19: 38,649,917-38,649,917 , GRCh37 chr19: 39,140,556-39,140,556 , GRCh37 chr19: 39,140,557-39,140,557 , GRCh38.p12 chr19|NW_014040929.1: 59,552-59,552 , GRCh38.p12 chr19|NW_014040929.1: 59,553-59,553 ACTN4, DYRK1A
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