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Items: 1 to 20 of 97

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv6919018copy number variation1nstd229human GRCh38 chr12: 49,347,180-49,350,896 , GRCh37.p13 chr12: 49,740,963-49,744,679 DNAJC22
    nsv6588336inversion1nstd223human GRCh38 chr12: 49,353,386-49,353,839 , GRCh37.p13 chr12: 49,747,169-49,747,622 DNAJC22
    nsv6460427copy number variation1nstd223human GRCh38 chr12: 49,343,692-49,350,576 , GRCh37.p13 chr12: 49,737,475-49,744,359 DNAJC22
    nsv6143026copy number variation1nstd206human GRCh38 chr12: 48,500,915-111,724,058 , GRCh37.p13 chr12: 48,894,698-112,161,862 , LINC00592, 1206 more genes
    nsv6132250copy number variation1nstd213human GRCh37 chr12: 49,440,000-51,850,001 , GRCh38.p12 chr12: 49,046,217-51,456,217 DAZAP2, KCNH3, 83 more genes
    nsv5374046translocation1nstd200human GRCh38 chr12: 49,345,835-49,345,835 , GRCh38 chr12: 49,343,564-49,343,564 , GRCh37.p13 chr12: 49,737,347-49,737,347 , GRCh37.p13 chr12: 49,739,618-49,739,618 DNAJC22
    nsv5040224inversion1nstd200human GRCh38 chr12: 47,213,128-71,357,206 , GRCh37.p13 chr12: 47,606,911-71,750,986 , NR4A1, 686 more genes
    nsv4972573copy number variation1nstd200human GRCh38 chr12: 49,345,834-49,350,588 , GRCh37.p13 chr12: 49,739,617-49,744,371 DNAJC22
    nsv4972572copy number variation1nstd200human GRCh38 chr12: 49,343,691-49,350,577 , GRCh37.p13 chr12: 49,737,474-49,744,360 DNAJC22
    nsv4755205inversion1nstd199human GRCh37 chr12: 25,956,127-125,801,151 , GRCh38.p12 chr12: 25,803,193-125,316,605 , ACACB, 1787 more genes
    nsv4736781copy number variation1nstd199human GRCh37 chr12: 25,957,322-125,801,148 , GRCh38.p12 chr12: 25,804,388-125,316,602 , RNA5SP368, 1787 more genes
    nsv4728980copy number variation1nstd102humanUncertain significance GRCh37 chr12: 49,584,942-49,910,016 , GRCh38.p12 chr12: 49,191,159-49,516,233 LOC100335030, TROAP-AS1, 6 more genes
    nsv4728793copy number variation1nstd102humanUncertain significance GRCh37 chr12: 49,024,019-50,299,974 , GRCh38.p12 chr12: 48,630,236-49,906,191 SPATS2, SPMIP11, 62 more genes
    nsv4508407mobile element insertion1nstd166human GRCh37.p13 chr12: 49,743,300-49,743,300 , GRCh38.p12 chr12: 49,349,517-49,349,517 DNAJC22
    nsv4386064copy number variation1nstd173human GRCh37 chr12: 49,555,059-49,816,495 , GRCh38.p12 chr12: 49,161,276-49,422,712 TROAP, SPATS2, 7 more genes
    nsv4324772inversion1nstd166human GRCh37.p13 chr12: 27,368,635-91,765,744 , GRCh38.p12 chr12: 27,215,702-91,371,967 , ATP2B1, 1101 more genes
    nsv3920847inversion1nstd102humanUncertain significance GRCh38.p12 chr12: 26,217,318-53,967,754 , GRCh37 chr12: 26,370,251-54,361,538 , ASIC1, 491 more genes
    nsv3914194copy number variation1nstd102humanPathogenic NCBI36 chr12: 100,698-132,283,466 , GRCh37 chr12: 282,465-133,773,393 , GRCh38 chr12: 121,271-133,196,807 , BTG1P1, 2451 more genes
    nsv3905447copy number variation2nstd102humanPathogenic GRCh37 chr12: 173,787-133,777,902 , GRCh38.p12 chr12: 64,621-133,201,316 , LOH12CR2, 2452 more genes
    nsv3904719copy number variation1nstd102humanPathogenic GRCh37 chr12: 621,220-133,779,118 , GRCh38.p12 chr12: 512,054-133,202,532 , OR5BT1P, 2441 more genes
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