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Items: 1 to 20 of 91

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5505846copy number variation1nstd206human GRCh38 chr12: 49,835,010-49,837,685 , GRCh37.p13 chr12: 50,228,793-50,231,468 BCDIN3D-AS1, BCDIN3D
    nsv5423226mobile element insertion1nstd206human GRCh38 chr12: 49,837,736-49,837,787 , GRCh37.p13 chr12: 50,231,519-50,231,570 BCDIN3D-AS1, BCDIN3D
    nsv5139104mobile element insertion1nstd203human GRCh38 chr12: 49,837,805-49,837,820 , GRCh37.p13 chr12: 50,231,588-50,231,603 BCDIN3D-AS1, BCDIN3D
    nsv5133291mobile element insertion1nstd203human GRCh38 chr12: 49,837,721-49,837,736 , GRCh37.p13 chr12: 50,231,504-50,231,519 BCDIN3D, BCDIN3D-AS1
    nsv5126675mobile element insertion1nstd203human GRCh38 chr12: 49,834,638-49,834,638 , GRCh37.p13 chr12: 50,228,421-50,228,421 BCDIN3D-AS1, BCDIN3D
    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
    nsv4541282insertion1nstd166human GRCh37.p13 chr12: 50,231,504-50,231,504 , GRCh38.p12 chr12: 49,837,721-49,837,721 BCDIN3D-AS1, BCDIN3D
    nsv4385013copy number variation1nstd173human GRCh37 chr12: 50,199,651-50,434,014 , GRCh38.p12 chr12: 49,805,868-50,040,231 , FAIM2, 14 more genes
    nsv4376507copy number variation2nstd173human GRCh37 chr12: 50,199,682-50,434,033 , GRCh38.p12 chr12: 49,805,899-50,040,250 , BCDIN3D-AS1, 14 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
    nsv3922260copy number variation1nstd102humanUncertain significance NCBI36 chr12: 48,520,125-48,995,258 , GRCh38 chr12: 49,840,075-50,315,208 , GRCh37 chr12: 50,233,858-50,708,991 CERS5, LINC02395, 21 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
    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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