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Items: 1 to 20 of 205

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5973346inversion1nstd209human GRCh38 chr12: 118,054,601-123,705,841 , GRCh37.p13 chr12: 118,492,406-124,190,388 , ACADS, 162 more genes
    nsv5945383copy number variation1nstd209human GRCh38 chr12: 123,425,279-123,429,397 , GRCh37.p13 chr12: 123,909,826-123,913,944 RILPL2
    nsv5939058copy number variation1nstd209human GRCh38 chr12: 123,418,944-123,419,249 , GRCh37.p13 chr12: 123,903,491-123,903,796 RILPL2
    nsv5932827copy number variation1nstd209human GRCh38 chr12: 123,409,525-123,409,847 , GRCh37.p13 chr12: 123,894,072-123,894,394 KMT5A, RILPL2
    nsv5848957copy number variation1nstd209human GRCh38 chr12: 123,425,166-123,429,190 , GRCh37.p13 chr12: 123,909,713-123,913,737 RILPL2
    nsv5654041insertion1nstd207human GRCh38 chr12: 123,425,654-123,425,654 , GRCh37.p13 chr12: 123,910,201-123,910,201 RILPL2
    nsv5505758copy number variation1nstd206human GRCh38 chr12: 123,425,790-123,429,437 , GRCh37.p13 chr12: 123,910,337-123,913,984 RILPL2
    nsv5505589copy number variation1nstd206human GRCh38 chr12: 123,425,144-123,429,657 , GRCh37.p13 chr12: 123,909,691-123,914,204 RILPL2
    nsv5381782copy number variation1nstd102humanPathogenic GRCh37 chr12: 123,878,845-126,829,341 , GRCh38.p12 chr12: 123,394,298-126,344,795 DDX55, ZNF664, 55 more genes
    nsv5302028copy number variation1nstd204human GRCh38.p13 chr12: 123,424,974-123,429,715 , GRCh37.p13 chr12: 123,909,521-123,914,262 RILPL2
    nsv5274976copy number variation1nstd204human GRCh38.p13 chr12: 123,116,301-123,767,100 , GRCh37.p13 chr12: 123,600,848-124,251,647 SNRNP35, KMT5A, 25 more genes
    nsv5274833copy number variation1nstd204human GRCh38.p13 chr12: 123,425,666-123,429,390 , GRCh37.p13 chr12: 123,910,213-123,913,937 RILPL2
    nsv5274155copy number variation1nstd204human GRCh38.p13 chr12: 123,405,601-123,476,300 , GRCh37.p13 chr12: 123,890,148-123,960,847 COPS5P2, SNRNP35, 3 more genes
    nsv5195379mobile element insertion1nstd203human GRCh38 chr12: 123,434,583-123,434,597 , GRCh37.p13 chr12: 123,919,130-123,919,144 RILPL2
    nsv5131597mobile element insertion1nstd203human GRCh38 chr12: 123,430,265-123,430,271 , GRCh37.p13 chr12: 123,914,812-123,914,818 RILPL2
    nsv5129868mobile element insertion1nstd203human GRCh38 chr12: 123,419,911-123,419,918 , GRCh37.p13 chr12: 123,904,458-123,904,465 RILPL2
    nsv4996176copy number variation1nstd200human GRCh38 chr12: 123,425,065-123,428,243 , GRCh37.p13 chr12: 123,909,612-123,912,790 RILPL2
    nsv4993825copy number variation1nstd200human GRCh38 chr12: 123,433,261-123,439,526 , GRCh37.p13 chr12: 123,917,808-123,924,073 COPS5P2, RILPL2
    nsv4993824copy number variation1nstd200human GRCh38 chr12: 123,425,270-123,429,472 , GRCh37.p13 chr12: 123,909,817-123,914,019 RILPL2
    nsv4993823copy number variation1nstd200human GRCh38 chr12: 123,417,837-123,426,442 , GRCh37.p13 chr12: 123,902,384-123,910,989 RILPL2
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