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Items: 1 to 20 of 73

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv4736781copy number variation1nstd199human GRCh37 chr12: 25,957,322-125,801,148 , GRCh38.p12 chr12: 25,804,388-125,316,602 , RNA5SP368, 1787 more genes
    nsv4729526copy number variation1nstd102humanUncertain significance GRCh37 chr12: 40,678,619-43,945,453 , GRCh38.p12 chr12: 40,284,817-43,551,650 LINC02450, PPHLN1, 33 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
    nsv3921330copy number variation1nstd102humanPathogenic GRCh37 chr12: 41,107,689-46,945,683 , GRCh38 chr12: 40,713,887-46,551,900 , NCBI36 chr12: 39,393,956-45,231,950 RACGAP1P1, RNA5SP360, 61 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
    nsv3917976copy number variation1nstd102humanUncertain significance GRCh38 chr12: 41,782,886-42,950,380 , GRCh37 chr12: 42,176,688-43,344,183 , NCBI36 chr12: 40,462,955-41,630,450 PRICKLE1, LOC105378247, 16 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
    nsv3904242copy number variation1nstd102humanPathogenic GRCh37 chr12: 1-133,851,895 , GRCh38.p12 chr12: 45,740-133,265,309 , RNA5SP369, 2454 more genes
    nsv3898677copy number variation1nstd102humanUncertain significance GRCh37 chr12: 42,953,596-43,480,394 , GRCh38.p12 chr12: 42,559,794-43,086,591 RPS27P21, LOC100420897, 6 more genes
    nsv3898591copy number variation1nstd102humanPathogenic GRCh37 chr12: 37,857,750-49,791,459 , GRCh38.p12 chr12: 37,463,948-49,397,676 ZNF75BP, YAF2, 195 more genes
    nsv3897722copy number variation1nstd102humanPathogenic GRCh37 chr12: 191,619-133,777,645 , GRCh38.p12 chr12: 82,453-133,201,059 , RNU4ATAC16P, 2452 more genes
    nsv3169098inversion1nstd158human GRCh37 chr12: 28,095,967-121,612,723 , GRCh38.p12 chr12: 27,943,034-121,174,920 , ACACB, 1642 more genes
    nsv3169084inversion1nstd158human GRCh37 chr12: 25,261,327-66,452,514 , GRCh38.p12 chr12: 25,108,393-66,058,734 , ASIC1, 835 more genes
    nsv3168746inversion1nstd158human GRCh37 chr12: 2,444,756-66,452,522 , GRCh38.p12 chr12: 2,335,590-66,058,742 , A2M, 1361 more genes
    nsv3167759inversion1nstd158human GRCh37 chr12: 24,267,124-66,452,483 , GRCh38.p12 chr12: 24,114,190-66,058,703 , ASIC1, 851 more genes
    esv4010129copy number variation1estd233human GRCh37 chr12: 42,908,000-45,888,000 , GRCh38.p12 chr12: 42,514,198-45,494,217 NELL2, TWF1, 28 more genes
    nsv2742798copy number variation1nstd130human NCBI36 chr12: 39,170,012-44,714,396 , GRCh37.p13 chr12: 40,883,745-46,428,129 , GRCh38.p12 chr12: 40,489,943-46,034,346 , LOC107984498, 59 more genes
    nsv2735999copy number variation1nstd130human NCBI36 chr12: 64,079-132,288,869 , GRCh37.p13 chr12: 282,465-133,778,796 , GRCh38.p12 chr12: 84,652-133,202,210 , CHST11, 2525 more genes
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