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Items: 1 to 20 of 113

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7069901inversion1nstd229human GRCh38 chr12: 51,176,082-54,825,440 , GRCh37.p13 chr12: 51,569,865-55,219,224 , HOXC5, 158 more genes
    nsv6935551copy number variation1nstd229human GRCh38 chr12: 52,000,321-52,005,371 , GRCh37.p13 chr12: 52,394,105-52,399,155 TAMALIN-AS1, TAMALIN
    nsv6143026copy number variation1nstd206human GRCh38 chr12: 48,500,915-111,724,058 , GRCh37.p13 chr12: 48,894,698-112,161,862 , LINC00592, 1206 more genes
    nsv6132252copy number variation1nstd213human GRCh37 chr12: 51,940,000-52,650,001 , GRCh38.p12 chr12: 51,546,216-52,256,217 ACVR1B, KRT80, 22 more genes
    nsv5539286insertion1nstd206human GRCh38 chr12: 52,016,362-52,016,374 , GRCh37.p13 chr12: 52,410,146-52,410,158 TAMALIN
    nsv5040224inversion1nstd200human GRCh38 chr12: 47,213,128-71,357,206 , GRCh37.p13 chr12: 47,606,911-71,750,986 , NR4A1, 686 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
    nsv4599329copy number variation1nstd183human GRCh37 chr12: 52,400,767-52,401,038 , GRCh38.p12 chr12: 52,006,983-52,007,254 TAMALIN-AS1, TAMALIN
    nsv4559196inversion1nstd166human GRCh37.p13 chr12: 51,569,865-55,219,228 , GRCh38.p12 chr12: 51,176,082-54,825,444 , EIF4B, 163 more genes
    nsv4555967insertion1nstd166human GRCh37.p13 chr12: 52,410,146-52,410,146 , GRCh38.p12 chr12: 52,016,362-52,016,362 TAMALIN
    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
    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
    nsv3904242copy number variation1nstd102humanPathogenic GRCh37 chr12: 1-133,851,895 , GRCh38.p12 chr12: 45,740-133,265,309 , RNA5SP369, 2454 more genes
    nsv3897722copy number variation1nstd102humanPathogenic GRCh37 chr12: 191,619-133,777,645 , GRCh38.p12 chr12: 82,453-133,201,059 , RNU4ATAC16P, 2452 more genes
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