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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv3876238copy number variation1nstd102humanPathogenic GRCh38 chr7: 69,899,499-70,435,751 , GRCh37.p13 chr7: 69,364,485-69,900,737 AUTS2
    nsv3880996copy number variation1nstd102humanPathogenic GRCh38 chr2: 148,157,591-148,226,058 , GRCh37.p13 chr2: 148,915,160-148,983,627 MBD5
    nsv5381794copy number variation1nstd102humanPathogenic GRCh37 chr16: 3,784,414-3,821,324 , GRCh38.p12 chr16: 3,734,413-3,771,323 CREBBP
    nsv3876490copy number variation1nstd102humanPathogenic GRCh37 chr1: 100,472,570-100,477,109 , GRCh38 chr1: 100,007,014-100,011,553 SLC35A3
    nsv5673239copy number variation1nstd102humanPathogenic GRCh37 chr1: 100,472,580-100,477,099 , GRCh38.p12 chr1: 100,007,024-100,011,543 SLC35A3
    nsv6314929copy number variation1nstd102humanPathogenic GRCh37 chrX: 153,296,068-153,297,734 , GRCh38 chrX: 154,030,617-154,032,283 MECP2
    nsv6310660copy number variation1nstd102humanPathogenic GRCh37 chr1: 100,459,083-100,459,307 , GRCh38.p12 chr1: 99,993,527-99,993,751 SLC35A3
    nsv6314514complex chromosomal rearrangement3nstd102humanPathogenic GRCh37 chr7: 128,114,023-128,114,023 , GRCh37 chr19: 29,247,464-29,247,464 , GRCh37 chr19: 29,247,464-29,247,464 , GRCh37 chr19: 32,861,768-32,861,768 , GRCh37 chr7: 128,114,028-128,114,028 , GRCh37 chr19: 32,861,768-32,861,768 , GRCh38.p12 chr7: 128,473,974-128,473,974 , GRCh38.p12 chr19: 28,756,557-28,756,557 , 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 , GRCh38.p12 chr7: 128,473,969-128,473,969 ZNF507
    nsv6314631complex chromosomal rearrangement2nstd102humanPathogenic GRCh38.p12 chr12: 13,802,882-13,802,882 , GRCh38.p12 chr12: 13,802,884-13,802,884 , GRCh38.p12 chr12: 81,925,247-81,925,247 , GRCh38.p12 chr12: 81,925,249-81,925,249 , GRCh37 chr12: 13,955,816-13,955,816 , GRCh37 chr12: 13,955,818-13,955,818 , GRCh37 chr12: 82,319,026-82,319,026 , GRCh37 chr12: 82,319,028-82,319,028 GRIN2B
    nsv6314451complex chromosomal rearrangement2nstd102humanPathogenic GRCh38.p12 chr14: 21,431,705-21,431,705 , GRCh38.p12 chr14: 21,431,705-21,431,705 , GRCh37 chr14: 21,899,864-21,899,864 , GRCh37 chr14: 21,899,864-21,899,864 , GRCh37 chr3: 156,276,247-156,276,247 , GRCh37 chr3: 156,276,251-156,276,251 , GRCh38.p12 chr3: 156,558,458-156,558,458 , GRCh38.p12 chr3: 156,558,462-156,558,462 CHD8
    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
    nsv6314282complex chromosomal rearrangement2nstd102humanPathogenic GRCh37 chr11: 46,619,320-46,619,320 , GRCh37 chr11: 46,619,326-46,619,326 , GRCh38.p12 chr11: 46,597,770-46,597,770 , GRCh38.p12 chr11: 46,597,776-46,597,776 , GRCh38.p12 chr9: 137,767,171-137,767,171 , GRCh38.p12 chr9: 137,767,202-137,767,202 , GRCh37 chr9: 140,661,623-140,661,623 , GRCh37 chr9: 140,661,654-140,661,654 EHMT1
    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
    nsv3884481copy number variation1nstd102humanLikely pathogenic GRCh38 chr8: 3,914,469-4,157,437 , GRCh37.p13 chr8: 3,771,991-4,014,959 CSMD1
    nsv3876706copy number variation1nstd102humanLikely pathogenic GRCh38 chr20: 42,303,583-42,488,707 , GRCh37.p13 chr20: 40,932,223-41,117,347 PTPRT
    nsv3889638copy number variation1nstd102humanLikely pathogenic GRCh38 chrX: 31,660,226-31,820,401 , GRCh37.p13 chrX: 31,678,343-31,838,518 DMD
    nsv3883761copy number variation1nstd102humanLikely pathogenic GRCh38 chr6: 162,035,873-162,195,188 , GRCh37.p13 chr6: 162,456,905-162,616,220 PRKN
    nsv3887575copy number variation1nstd102humanLikely pathogenic GRCh38 chr6: 162,036,131-162,191,715 , GRCh37.p13 chr6: 162,457,163-162,612,747 PRKN
    nsv3883403copy number variation1nstd102humanLikely pathogenic GRCh38 chr20: 15,307,783-15,453,889 , GRCh37.p13 chr20: 15,288,429-15,434,534 MACROD2
    nsv3882671copy number variation1nstd102humanLikely pathogenic GRCh38 chr7: 146,655,407-146,796,363 , GRCh37.p13 chr7: 146,352,499-146,493,455 CNTNAP2
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