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Items: 1 to 20 of 127

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5701161mobile element insertion1nstd211human GRCh38 chr12: 53,444,035-53,444,035 , GRCh37.p13 chr12: 53,837,819-53,837,819 PRR13
    nsv5427588mobile element insertion1nstd206human GRCh38 chr12: 53,444,035-53,444,086 , GRCh37.p13 chr12: 53,837,819-53,837,870 PRR13
    nsv5269754copy number variation1nstd204human GRCh38.p13 chr12: 53,319,601-53,446,000 , GRCh37.p13 chr12: 53,713,385-53,839,784 SP7, PRR13, 3 more genes
    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
    nsv5125095mobile element insertion1nstd203human GRCh38 chr12: 53,444,018-53,444,035 , GRCh37.p13 chr12: 53,837,802-53,837,819 PRR13
    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
    nsv4830436copy number variation1nstd200human GRCh37 chr12: 53,834,391-53,836,214 , GRCh38.p12 chr12: 53,440,607-53,442,430 PRR13
    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
    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
    nsv4618592copy number variation1nstd183human GRCh37 chr12: 53,835,232-53,840,588 , GRCh38.p12 chr12: 53,441,448-53,446,804 PRR13
    nsv4601831copy number variation1nstd183human GRCh37 chr12: 53,835,232-53,837,168 , GRCh38.p12 chr12: 53,441,448-53,443,384 PRR13
    nsv4559196inversion1nstd166human GRCh37.p13 chr12: 51,569,865-55,219,228 , GRCh38.p12 chr12: 51,176,082-54,825,444 , EIF4B, 163 more genes
    nsv4510415mobile element insertion1nstd166human GRCh37.p13 chr12: 53,837,802-53,837,802 , GRCh38.p12 chr12: 53,444,018-53,444,018 PRR13
    nsv4436658copy number variation1nstd102humanPathogenic GRCh37 chr12: 53,784,698-54,741,363 , GRCh38.p12 chr12: 53,390,914-54,347,579 , CALCOCO1, 53 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
    nsv3924873copy number variation1nstd102humanPathogenic GRCh38 chr12: 53,224,024-54,222,450 , GRCh37 chr12: 53,617,808-54,616,234 , NCBI36 chr12: 51,904,075-52,902,501 , PFDN5, 51 more genes
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