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Items: 1 to 20 of 120

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5712837mobile element insertion2nstd211human GRCh38 chr12: 52,827,314-52,827,314 , GRCh37.p13 chr12: 53,221,098-53,221,098 KRT79
    nsv5661217insertion1nstd207human GRCh38 chr12: 52,827,300-52,827,300 , GRCh37.p13 chr12: 53,221,084-53,221,084 KRT79
    nsv5418465mobile element insertion1nstd206human GRCh38 chr12: 52,827,314-52,827,365 , GRCh37.p13 chr12: 53,221,098-53,221,149 KRT79
    nsv5132129mobile element insertion1nstd203human GRCh38 chr12: 52,827,300-52,827,314 , GRCh37.p13 chr12: 53,221,084-53,221,098 KRT79
    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
    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
    nsv4606669copy number variation1nstd183human GRCh37 chr12: 53,225,252-53,227,881 , GRCh38.p12 chr12: 52,831,468-52,834,097 KRT79
    nsv4559196inversion1nstd166human GRCh37.p13 chr12: 51,569,865-55,219,228 , GRCh38.p12 chr12: 51,176,082-54,825,444 , EIF4B, 163 more genes
    nsv4502164mobile element insertion1nstd166human GRCh37.p13 chr12: 53,221,084-53,221,084 , GRCh38.p12 chr12: 52,827,300-52,827,300 KRT79
    nsv4324772inversion1nstd166human GRCh37.p13 chr12: 27,368,635-91,765,744 , GRCh38.p12 chr12: 27,215,702-91,371,967 , ATP2B1, 1101 more genes
    nsv4196946copy number variation1nstd166human GRCh37.p13 chr12: 53,228,086-53,228,163 , GRCh38.p12 chr12: 52,834,302-52,834,379 KRT79
    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
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