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Items: 1 to 20 of 130

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5857956copy number variation1nstd209human GRCh38 chr12: 52,165,284-52,169,063 , GRCh37.p13 chr12: 52,559,068-52,562,847 KRT80
    nsv5593034copy number variation1nstd207human GRCh38 chr12: 52,180,539-52,180,975 , GRCh37.p13 chr12: 52,574,323-52,574,759 KRT80
    nsv5040224inversion1nstd200human GRCh38 chr12: 47,213,128-71,357,206 , GRCh37.p13 chr12: 47,606,911-71,750,986 , NR4A1, 686 more genes
    nsv4985599copy number variation1nstd200human GRCh38 chr12: 52,167,511-52,183,384 , GRCh37.p13 chr12: 52,561,295-52,577,168 KRT80
    nsv4972701copy number variation1nstd200human GRCh38 chr12: 52,134,819-52,236,505 , GRCh37.p13 chr12: 52,528,603-52,630,289 LINC02874, TMT1AP1, 3 more genes
    nsv4844082copy number variation1nstd200human GRCh37 chr12: 52,528,604-52,630,289 , GRCh38.p12 chr12: 52,134,820-52,236,505 KRT7, KRT80, 3 more genes
    nsv4842602copy number variation1nstd200human GRCh37 chr12: 52,561,295-52,577,168 , GRCh38.p12 chr12: 52,167,511-52,183,384 KRT80
    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
    nsv4559196inversion1nstd166human GRCh37.p13 chr12: 51,569,865-55,219,228 , GRCh38.p12 chr12: 51,176,082-54,825,444 , EIF4B, 163 more genes
    nsv4424833copy number variation1nstd174human GRCh37 chr12: 52,502,658-52,570,232 , GRCh38.p12 chr12: 52,108,874-52,176,448 , KRT80
    nsv4324772inversion1nstd166human GRCh37.p13 chr12: 27,368,635-91,765,744 , GRCh38.p12 chr12: 27,215,702-91,371,967 , ATP2B1, 1101 more genes
    nsv4211430copy number variation1nstd166human GRCh37.p13 chr12: 52,580,393-52,580,461 , GRCh38.p12 chr12: 52,186,609-52,186,677 KRT80
    nsv4201209copy number variation1nstd166human GRCh37.p13 chr12: 52,563,587-52,567,409 , GRCh38.p12 chr12: 52,169,803-52,173,625 KRT80
    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
    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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