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Items: 1 to 20 of 89

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5040224inversion1nstd200human GRCh38 chr12: 47,213,128-71,357,206 , GRCh37.p13 chr12: 47,606,911-71,750,986 , NR4A1, 686 more genes
    nsv4833198copy number variation1nstd200human GRCh37 chr12: 50,033,225-50,033,297 , GRCh38.p12 chr12: 49,639,442-49,639,514 PRPF40B, FMNL3
    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
    nsv4324772inversion1nstd166human GRCh37.p13 chr12: 27,368,635-91,765,744 , GRCh38.p12 chr12: 27,215,702-91,371,967 , ATP2B1, 1101 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
    nsv3212715copy number variation1nstd152human GRCh38 chr12: 49,609,111-49,638,024 , GRCh37.p13 chr12: 50,002,894-50,031,807 PRPF40B, FMNL3, 1 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
    nsv3154996copy number variation2nstd151human GRCh37 chr12: 50,025,181-50,027,335 , GRCh38.p12 chr12: 49,631,398-49,633,552 PRPF40B
    nsv3152267copy number variation1nstd151human GRCh37 chr12: 49,949,400-50,295,113 , GRCh38.p12 chr12: 49,555,617-49,901,330 FMNL3, TMBIM6, 16 more genes
    nsv3140793copy number variation1nstd151human GRCh37 chr12: 50,025,181-50,028,390 , GRCh38.p12 chr12: 49,631,398-49,634,607 FMNL3, PRPF40B
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