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Items: 1 to 20 of 131

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5726846mobile element insertion1nstd211human GRCh38 chr12: 56,225,973-56,225,973 , GRCh37.p13 chr12: 56,619,757-56,619,757 NABP2
    nsv5559276mobile element insertion1nstd206human GRCh38 chr12: 56,225,973-56,226,024 , GRCh37.p13 chr12: 56,619,757-56,619,808 NABP2
    nsv5509859copy number variation1nstd206human GRCh38 chr12: 56,226,738-56,228,420 , GRCh37.p13 chr12: 56,620,522-56,622,204 SLC39A5, NABP2
    nsv5498012copy number variation1nstd206human GRCh38 chr12: 56,224,936-56,225,369 , GRCh37.p13 chr12: 56,618,720-56,619,153 NABP2
    nsv5494253copy number variation1nstd206human GRCh38 chr12: 56,226,367-56,229,011 , GRCh37.p13 chr12: 56,620,151-56,622,795 SLC39A5, NABP2
    nsv5278526copy number variation1nstd204human GRCh38.p13 chr12: 55,839,801-56,299,500 , GRCh37.p13 chr12: 56,233,585-56,693,284 , NABP2, 30 more genes
    nsv5040224inversion1nstd200human GRCh38 chr12: 47,213,128-71,357,206 , GRCh37.p13 chr12: 47,606,911-71,750,986 , NR4A1, 686 more genes
    nsv5036282inversion1nstd200human GRCh38 chr12: 52,338,357-95,425,642 , GRCh37.p13 chr12: 52,732,141-95,819,418 , MIR6502, 769 more genes
    nsv4883504inversion1nstd200human GRCh37 chr12: 52,732,141-95,819,418 , GRCh38.p12 chr12: 52,338,357-95,425,642 , MYL6B, 769 more genes
    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
    nsv4675143copy number variation1nstd102humanPathogenic GRCh37 chr12: 55,552,371-62,126,304 , GRCh38.p12 chr12: 55,158,587-61,732,523 OR6C71P, METTL1, 183 more genes
    nsv4605628copy number variation1nstd183human GRCh37 chr12: 56,615,650-56,616,027 , GRCh38.p12 chr12: 56,221,866-56,222,243 NABP2, RNF41
    nsv4599048copy number variation1nstd183human GRCh37 chr12: 56,615,500-56,617,996 , GRCh38.p12 chr12: 56,221,716-56,224,212 NABP2, RNF41
    nsv4342092sequence alteration1nstd166human GRCh37.p13 chr12: 55,894,696-56,786,542 , GRCh38.p12 chr12: 55,500,912-56,392,758 , CD63, 59 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
    nsv4204018copy number variation1nstd166human GRCh37.p13 chr12: 56,602,877-56,626,240 , GRCh38.p12 chr12: 56,209,093-56,232,456 SLC39A5, NABP2, 1 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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