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Items: 1 to 20 of 182

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5979704insertion1nstd209human GRCh38 chr12: 53,290,716-53,290,716 , GRCh37.p13 chr12: 53,684,500-53,684,500 ESPL1
    nsv5711838mobile element insertion2nstd211human GRCh38 chr12: 53,271,069-53,271,069 , GRCh37.p13 chr12: 53,664,853-53,664,853 ESPL1
    nsv5664187insertion1nstd207human GRCh38 chr12: 53,290,716-53,290,716 , GRCh37.p13 chr12: 53,684,500-53,684,500 ESPL1
    nsv5418417mobile element insertion1nstd206human GRCh38 chr12: 53,271,069-53,271,120 , GRCh37.p13 chr12: 53,664,853-53,664,904 ESPL1
    nsv5266008copy number variation1nstd204human GRCh38.p13 chr12: 53,248,501-53,495,800 , GRCh37.p13 chr12: 53,642,285-53,889,584 PCBP2, AAAS, 11 more genes
    nsv5125499mobile element insertion1nstd203human GRCh38 chr12: 53,271,054-53,271,069 , GRCh37.p13 chr12: 53,664,838-53,664,853 ESPL1
    nsv5040224inversion1nstd200human GRCh38 chr12: 47,213,128-71,357,206 , GRCh37.p13 chr12: 47,606,911-71,750,986 , NR4A1, 686 more genes
    nsv5036282inversion1nstd200human GRCh38 chr12: 52,338,357-95,425,642 , GRCh37.p13 chr12: 52,732,141-95,819,418 , MIR6502, 769 more genes
    nsv4883504inversion1nstd200human GRCh37 chr12: 52,732,141-95,819,418 , GRCh38.p12 chr12: 52,338,357-95,425,642 , MYL6B, 769 more genes
    nsv4755836insertion1nstd199human GRCh37 chr12: 53,684,497-53,684,497 , GRCh38.p12 chr12: 53,290,713-53,290,713 ESPL1
    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
    nsv4732845copy number variation1nstd199human GRCh37 chr12: 53,674,484-53,674,675 , GRCh38.p12 chr12: 53,280,700-53,280,891 ESPL1
    nsv4729204copy number variation1nstd102humanLikely pathogenic GRCh37 chr12: 53,614,278-53,971,802 , GRCh38.p12 chr12: 53,220,494-53,578,018 AMHR2, PCBP2, 18 more genes
    nsv4729090copy number variation1nstd102humanUncertain significance GRCh37 chr12: 53,372,321-53,864,490 , GRCh38.p12 chr12: 52,978,537-53,470,706 SPRYD3, ITGB7, 25 more genes
    nsv4725281insertion2nstd186human GRCh37 chr12: 53,684,500-53,684,500 , GRCh38.p12 chr12: 53,290,716-53,290,716 ESPL1
    nsv4684558insertion1nstd194human GRCh37 chr12: 53,684,500-53,684,500 , GRCh38.p12 chr12: 53,290,716-53,290,716 ESPL1
    nsv4609284copy number variation1nstd183human GRCh37 chr12: 53,685,601-53,685,703 , GRCh38.p12 chr12: 53,291,817-53,291,919 ESPL1
    nsv4559196inversion1nstd166human GRCh37.p13 chr12: 51,569,865-55,219,228 , GRCh38.p12 chr12: 51,176,082-54,825,444 , EIF4B, 163 more genes
    nsv4548207insertion1nstd166human GRCh37.p13 chr12: 53,684,500-53,684,500 , GRCh38.p12 chr12: 53,290,716-53,290,716 ESPL1
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