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Items: 1 to 20 of 109

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5499077copy number variation1nstd206human GRCh38 chr12: 52,843,310-52,843,633 , GRCh37.p13 chr12: 53,237,094-53,237,417 KRT78
    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
    nsv4972731copy number variation1nstd200human GRCh38 chr12: 52,848,509-52,849,907 , GRCh37.p13 chr12: 53,242,293-53,243,691 KRT78
    nsv4972730copy number variation1nstd200human GRCh38 chr12: 52,847,780-52,853,628 , GRCh37.p13 chr12: 53,241,564-53,247,412 KRT78
    nsv4883504inversion1nstd200human GRCh37 chr12: 52,732,141-95,819,418 , GRCh38.p12 chr12: 52,338,357-95,425,642 , MYL6B, 769 more genes
    nsv4841839copy number variation1nstd200human GRCh37 chr12: 53,236,790-53,239,628 , GRCh38.p12 chr12: 52,843,006-52,845,844 KRT78
    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
    nsv4675782copy number variation1nstd102humanUncertain significance GRCh37 chr12: 52,914,323-53,238,344 , GRCh38.p12 chr12: 52,520,539-52,844,560 KRT5, KRT2, 19 more genes
    nsv4614002copy number variation1nstd183human GRCh37 chr12: 53,235,918-53,290,428 , GRCh38.p12 chr12: 52,842,134-52,896,644 KRT78, RPL7P41, 1 more genes
    nsv4559196inversion1nstd166human GRCh37.p13 chr12: 51,569,865-55,219,228 , GRCh38.p12 chr12: 51,176,082-54,825,444 , EIF4B, 163 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
    nsv3924549copy number variation1nstd102humanPathogenic GRCh37 chr12: 51,027,671-53,245,693 , GRCh38 chr12: 50,633,888-52,851,909 , NCBI36 chr12: 49,313,938-51,531,960 KRT128P, KRT80, 82 more genes
    nsv3922322copy number variation1nstd102humanLikely benign GRCh38 chr12: 52,748,391-52,950,618 , NCBI36 chr12: 51,428,442-51,630,669 , GRCh37 chr12: 53,142,175-53,344,402 BTBD10P1, KRT18, 10 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
    nsv3912656copy number variation1nstd102humanPathogenic NCBI36 chr12: 48,802,409-51,928,511 , GRCh37 chr12: 50,516,142-53,642,244 , GRCh38 chr12: 50,122,359-53,248,460 KRT86, SLC11A2, 112 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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