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Items: 1 to 20 of 111

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv6143026copy number variation1nstd206human GRCh38 chr12: 48,500,915-111,724,058 , GRCh37.p13 chr12: 48,894,698-112,161,862 , LINC00592, 1206 more genes
    nsv6132250copy number variation1nstd213human GRCh37 chr12: 49,440,000-51,850,001 , GRCh38.p12 chr12: 49,046,217-51,456,217 DAZAP2, KCNH3, 83 more genes
    nsv5564512copy number variation1nstd102humanLikely pathogenic GRCh37 chr12: 37,873,948-49,578,619 , GRCh38.p12 chr12: 37,480,146-49,184,836 ADCY6, ABCD2, 187 more genes
    nsv5563454mobile element insertion1nstd206human GRCh38 chr12: 49,063,006-49,063,057 , GRCh37.p13 chr12: 49,456,789-49,456,840 RHEBL1
    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
    nsv4728793copy number variation1nstd102humanUncertain significance GRCh37 chr12: 49,024,019-50,299,974 , GRCh38.p12 chr12: 48,630,236-49,906,191 SPATS2, SPMIP11, 62 more genes
    nsv4578649copy number variation1nstd102humanPathogenic GRCh37 chr12: 49,034,325-49,468,966 , GRCh38.p12 chr12: 48,640,542-49,075,183 WNT1, SPMIP11, 29 more genes
    nsv4575404mobile element insertion1nstd166human GRCh37.p13 chr12: 49,460,645-49,460,645 , GRCh38.p12 chr12: 49,066,862-49,066,862 RHEBL1
    nsv4324772inversion1nstd166human GRCh37.p13 chr12: 27,368,635-91,765,744 , GRCh38.p12 chr12: 27,215,702-91,371,967 , ATP2B1, 1101 more genes
    nsv4210920copy number variation1nstd166human GRCh37.p13 chr12: 49,455,882-49,456,907 , GRCh38.p12 chr12: 49,062,099-49,063,124 RHEBL1
    nsv3963640insertion1nstd168human GRCh38 chr12: 49,061,093-49,066,153 , GRCh37.p13 chr12: 49,454,876-49,459,936 KMT2D, RHEBL1
    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
    nsv3905831copy number variation1nstd102humanUncertain significance GRCh37 chr12: 49,191,810-49,630,201 , GRCh38.p12 chr12: 48,798,027-49,236,418 TUBA1A, WNT1, 26 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
    nsv3902532copy number variation1nstd102humanBenign GRCh37 chr12: 49,055,179-49,466,566 , GRCh38.p12 chr12: 48,661,396-49,072,783 SPMIP11, CACNB3, 26 more genes
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