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Items: 1 to 20 of 291

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5955961copy number variation1nstd209human GRCh38 chr22: 47,484,807-47,485,078 , GRCh37.p13 chr22: 47,880,556-47,880,827 LINC01644
    nsv5541360copy number variation1nstd206human GRCh38 chr22: 47,479,595-47,480,761 , GRCh37.p13 chr22: 47,875,344-47,876,510 LINC01644
    nsv5381149copy number variation1nstd102humanPathogenic GRCh37 chr22: 42,333,802-51,195,728 , GRCh38.p12 chr22: 41,937,798-50,757,300 WBP2NL, RN7SKP80, 210 more genes
    nsv5338105translocation1nstd200human GRCh37 chr22: 47,880,831-47,880,831 , GRCh37 chr22: 47,880,556-47,880,556 , GRCh38.p12 chr22: 47,484,807-47,484,807 , GRCh38.p12 chr22: 47,485,082-47,485,082 LINC01644
    nsv5289139copy number variation1nstd204human GRCh38.p13 chr22: 47,478,201-47,482,800 , GRCh37.p13 chr22: 47,873,950-47,878,549 LINC01644
    nsv5287503copy number variation1nstd204human GRCh38.p13 chr22: 47,330,201-48,666,800 , GRCh37.p13 chr22: 47,725,951-49,062,612 , LINC00898, 10 more genes
    nsv5040609copy number variation1nstd200human GRCh38 chr22: 47,425,212-47,484,304 , GRCh37.p13 chr22: 47,820,962-47,880,053 LINC01644
    nsv5037661copy number variation1nstd200human GRCh38 chr22: 47,331,287-47,477,356 , GRCh37.p13 chr22: 47,727,037-47,873,105 LOC339685, LINC01644
    nsv5034448copy number variation1nstd200human GRCh38 chr22: 47,479,595-47,480,761 , GRCh37.p13 chr22: 47,875,344-47,876,510 LINC01644
    nsv5032583copy number variation1nstd200human GRCh38 chr22: 47,374,773-47,494,874 , GRCh37.p13 chr22: 47,770,523-47,890,623 LINC01644
    nsv5030180copy number variation1nstd200human GRCh38 chr22: 47,478,316-47,480,463 , GRCh37.p13 chr22: 47,874,065-47,876,212 LINC01644
    nsv4881315copy number variation1nstd200human GRCh37 chr22: 47,875,344-47,876,510 , GRCh38.p12 chr22: 47,479,595-47,480,761 LINC01644
    nsv4879259copy number variation1nstd200human GRCh37 chr22: 47,770,523-47,890,623 , GRCh38.p12 chr22: 47,374,773-47,494,874 LINC01644
    nsv4871517copy number variation1nstd200human GRCh37 chr22: 47,303,248-48,934,346 , GRCh38.p12 chr22: 46,907,352-48,538,534 , EPIC1, 13 more genes
    nsv4729926copy number variation1nstd102humanPathogenic GRCh37 chr22: 16,197,005-51,224,252 , GRCh38.p12 chr22: 16,367,190-50,785,824 FBXO7, GTSE1, 1084 more genes
    nsv4685973copy number variation1nstd102humanPathogenic GRCh38 chr22: 45,708,330-50,737,364 , GRCh37.p13 chr22: 46,104,210-51,175,792 PRR34, KLHDC7B, 102 more genes
    nsv4685945copy number variation1nstd102humanPathogenic GRCh38 chr22: 43,032,129-50,739,836 , GRCh37.p13 chr22: 43,428,135-51,178,264 LOC101927474, SHISAL1, 165 more genes
    nsv4685937copy number variation1nstd102humanPathogenic GRCh38 chr22: 43,802,117-50,806,121 , GRCh37.p13 chr22: 44,197,997-51,203,353 CIMAP1B, PNPLA3, 151 more genes
    nsv4685917copy number variation1nstd102humanPathogenic GRCh38 chr22: 47,447,433-50,806,138 , GRCh37.p13 chr22: 47,843,182-51,203,353 HDAC10, MIOX, 70 more genes
    nsv4685915copy number variation1nstd102humanPathogenic GRCh38 chr22: 44,702,479-50,806,138 , GRCh37.p13 chr22: 45,098,359-51,203,353 LOC105373066, LOC339685, 130 more genes
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