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Items: 1 to 20 of 165

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7059980inversion1nstd229human GRCh38 chr20: 30,656,049-33,860,963 , GRCh37.p13 chr20: 29,803,910-32,448,769 NECAB3, EFCAB8, 98 more genes
    nsv7028368copy number variation1nstd229human GRCh38 chr20: 31,579,910-33,642,127 , GRCh37.p13 chr20: 30,167,713-32,229,933 PLAGL2, BPIFB4, 57 more genes
    nsv7025852copy number variation1nstd229human GRCh38 chr20: 32,903,979-33,016,097 , GRCh37.p13 chr20: 31,491,785-31,603,903 SUN5, EFCAB8, 1 more genes
    nsv6637725copy number variation1nstd102humanLikely pathogenic GRCh37 chr20: 29,833,535-34,815,537 , GRCh38.p12 chr20: 31,245,732-36,227,615 AHCY, ASIP, 160 more genes
    nsv6637546copy number variation1nstd102humanLikely pathogenic GRCh37 chr20: 29,652,122-35,603,726 , GRCh38.p12 chr20: 30,417,446-36,975,323 AHCY, ASIP, 195 more genes
    nsv6313956copy number variation1nstd102humanPathogenic GRCh37 chr20: 25,442,597-33,761,550 , GRCh38.p12 chr20: 25,461,961-35,173,747 LOC105372586, RNU6-384P, 193 more genes
    nsv6311078copy number variation1nstd102humanPathogenic GRCh37 chr20: 31,189,994-34,287,210 , GRCh38.p12 chr20: 32,602,192-35,699,288 EDEM2, EIF2S2, 93 more genes
    nsv6291578copy number variation1nstd102humanLikely pathogenic GRCh37 chr20: 18,665,879-33,903,216 , GRCh38.p12 chr20: 18,685,235-35,315,413 AHCY, ASIP, 330 more genes
    nsv6251390mobile element insertion1nstd215human GRCh38 chr20: 33,001,507-33,001,507 , GRCh37.p13 chr20: 31,589,313-31,589,313 SUN5
    nsv6134287copy number variation1nstd213human GRCh37 chr20: 31,520,000-31,940,001 , GRCh38.p12 chr20: 32,932,194-33,352,195 BPIFA3, PUDPP3, 17 more genes
    nsv6133806copy number variation1nstd213human GRCh37 chr20: 30,990,000-32,330,001 , GRCh38.p12 chr20: 32,402,197-33,742,195 SNTA1, ZNF341, 36 more genes
    nsv5603252copy number variation1nstd207human GRCh38 chr20: 32,982,554-32,982,687 , GRCh37.p13 chr20: 31,570,360-31,570,493 SUN5
    nsv5377359translocation1nstd200human GRCh38 chr2: 222,732,354-222,732,354 , GRCh38 chr20: 32,985,711-32,985,711 , GRCh37.p13 chr2: 223,597,073-223,597,073 , GRCh37.p13 chr20: 31,573,517-31,573,517 SUN5
    nsv5022369copy number variation1nstd200human GRCh38 chr20: 33,001,541-33,001,606 , GRCh37.p13 chr20: 31,589,347-31,589,412 SUN5
    nsv5022368copy number variation1nstd200human GRCh38 chr20: 32,991,146-33,003,296 , GRCh37.p13 chr20: 31,578,952-31,591,102 SUN5
    nsv5022343copy number variation1nstd200human GRCh38 chr20: 32,602,560-45,347,064 , GRCh37.p13 chr20: 31,190,362-43,975,704 , SNHG11, 286 more genes
    nsv5022342copy number variation1nstd200human GRCh38 chr20: 32,576,247-46,538,786 , GRCh37.p13 chr20: 31,164,049-45,167,425 , NECAB3, 350 more genes
    nsv5022326copy number variation1nstd200human GRCh38 chr20: 32,216,214-44,981,731 , GRCh37.p13 chr20: 30,804,017-43,610,372 , HNF4A, 279 more genes
    nsv4868593copy number variation1nstd200human GRCh37 chr20: 31,164,049-45,167,425 , GRCh38.p12 chr20: 32,576,247-46,538,786 , MMP24-AS1-EDEM2, 350 more genes
    nsv4868578copy number variation1nstd200human GRCh37 chr20: 30,804,017-43,610,372 , GRCh38.p12 chr20: 32,216,214-44,981,731 , SNORA71C, 279 more genes
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