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Items: 1 to 20 of 248

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5965527copy number variation1nstd209human GRCh38 chr22: 46,355,801-46,355,902 , GRCh37.p13 chr22: 46,751,698-46,751,799 TRMU
    nsv5668715insertion1nstd207human GRCh38 chr22: 46,340,503-46,340,503 , GRCh37.p13 chr22: 46,736,400-46,736,400 TRMU
    nsv5602066copy number variation1nstd207human GRCh38 chr22: 46,355,801-46,355,902 , GRCh37.p13 chr22: 46,751,698-46,751,799 TRMU
    nsv5547155copy number variation1nstd206human GRCh38 chr22: 46,355,808-46,355,903 , GRCh37.p13 chr22: 46,751,705-46,751,800 TRMU
    nsv5541587copy number variation1nstd206human GRCh38 chr22: 46,323,745-46,345,185 , GRCh37.p13 chr22: 46,719,642-46,741,082 GTSE1, TRMU
    nsv5540157copy number variation1nstd206human GRCh38 chr22: 46,351,685-46,351,766 , GRCh37.p13 chr22: 46,747,582-46,747,663 TRMU
    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
    nsv5329186copy number variation1nstd204human GRCh38.p13 chr22: 46,355,800-46,355,907 , GRCh37.p13 chr22: 46,751,697-46,751,804 TRMU
    nsv5039646copy number variation1nstd200human GRCh38 chr22: 46,356,233-46,493,762 , GRCh37.p13 chr22: 46,752,130-46,889,659 CELSR1, FAM136EP, 1 more genes
    nsv5033097copy number variation1nstd200human GRCh38 chr22: 46,355,808-46,355,903 , GRCh37.p13 chr22: 46,751,705-46,751,800 TRMU
    nsv5032814copy number variation1nstd200human GRCh38 chr22: 46,266,177-46,420,843 , GRCh37.p13 chr22: 46,662,074-46,816,740 TRMU, TTC38, 3 more genes
    nsv4879240copy number variation1nstd200human GRCh37 chr22: 46,751,705-46,751,800 , GRCh38.p12 chr22: 46,355,808-46,355,903 TRMU
    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
    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
    nsv4685911copy number variation1nstd102humanPathogenic GRCh38 chr22: 46,269,281-50,740,560 , GRCh37.p13 chr22: 46,665,178-51,178,988 ADM2, PLXNB2, 81 more genes
    nsv4685901copy number variation1nstd102humanPathogenic GRCh38 chr22: 44,245,760-50,806,121 , GRCh37.p13 chr22: 44,641,640-51,203,353 CHKB, TYMP, 141 more genes
    nsv4685899copy number variation1nstd102humanPathogenic GRCh38 chr22: 45,819,932-50,737,806 , GRCh37.p13 chr22: 46,215,812-51,176,234 CHKB-DT, CIMAP1B, 100 more genes
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