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Items: 1 to 20 of 531

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7148123copy number variation2nstd102humanPathogenic GRCh37 chr16: 29,517,464-30,200,058 , GRCh38.p12 chr16: 29,506,143-30,188,737 SMG1P2, QPRT, 39 more genes
    nsv7148104copy number variation1nstd102humanPathogenic GRCh37 chr16: 29,517,464-30,199,839 , GRCh38.p12 chr16: 29,506,143-30,188,518 QPRT, SMG1P2, 39 more genes
    nsv7148094copy number variation1nstd102humanPathogenic GRCh37 chr16: 29,511,270-30,243,006 , GRCh38.p12 chr16: 29,499,949-30,231,685 SMG1P2, KCTD13, 46 more genes
    nsv7144418copy number variation1nstd232human GRCh37.p13 chr16: 30,080,708-30,080,816 , GRCh38.p12 chr16: 30,069,387-30,069,495 ALDOA, LOC112694756
    nsv7139194copy number variation1nstd232human GRCh37.p13 chr16: 30,078,686-30,078,768 , GRCh38.p12 chr16: 30,067,365-30,067,447 ALDOA, LOC112694756
    nsv7138247copy number variation1nstd232human GRCh37.p13 chr16: 30,081,349-30,081,435 , GRCh38.p12 chr16: 30,070,028-30,070,114 ALDOA, LOC112694756
    nsv7137206copy number variation1nstd102humanPathogenic GRCh37 chr16: 29,620,748-30,250,606 , GRCh38.p12 chr16: 29,609,427-30,239,285 SMG1P2, QPRT, 43 more genes
    nsv7137124copy number variation1nstd102humanPathogenic GRCh37 chr16: 29,675,050-30,218,384 , GRCh38.p12 chr16: 29,663,729-30,207,063 LOC112694756, YPEL3-DT, 38 more genes
    nsv7137119copy number variation1nstd102humanPathogenic GRCh37 chr16: 29,495,011-30,206,548 , GRCh38.p12 chr16: 29,483,690-30,195,227 CORO1A-AS1, YPEL3-DT, 42 more genes
    nsv7098923copy number variation1nstd102humanPathogenic GRCh38 chr16: 29,653,297-30,181,026 , GRCh37.p13 chr16: 29,664,618-30,192,347 ALDOA, QPRT, 31 more genes
    nsv7093394copy number variation1nstd102humannot provided GRCh37 chr16: 29,670,770-30,207,956 , GRCh38.p12 chr16: 29,659,449-30,196,635 LOC105371167, CDIPTOSP, 36 more genes
    nsv7093385copy number variation1nstd102humannot provided GRCh37 chr16: 29,651,706-30,193,525 , GRCh38.p12 chr16: 29,640,385-30,182,204 PRRT2, KIF22, 33 more genes
    nsv7068091inversion1nstd229human GRCh38 chr16: 29,736,414-31,610,190 , GRCh37.p13 chr16: 29,747,735-31,621,511 C16orf92, TMEM219, 118 more genes
    nsv6996863copy number variation1nstd229human GRCh38 chr16: 30,064,506-30,067,232 , GRCh37.p13 chr16: 30,075,827-30,078,553 LOC112694756, ALDOA
    nsv6990459copy number variation1nstd229human GRCh38 chr16: 30,063,586-30,063,616 , GRCh37.p13 chr16: 30,074,907-30,074,937 LOC112694756, ALDOA
    nsv6980036copy number variation1nstd229human GRCh38 chr16: 30,067,318-30,073,978 , GRCh37.p13 chr16: 30,078,639-30,085,299 LOC112694756, ALDOA
    nsv6637889copy number variation2nstd102humanPathogenic GRCh37 chr16: 29,567,296-30,240,227 , GRCh38.p12 chr16: 29,555,975-30,228,906 MIR3680-2, TLCD3B, 45 more genes
    nsv6637734copy number variation1nstd102humanPathogenic GRCh37 chr16: 29,432,213-30,240,227 , GRCh38.p12 chr16: 29,420,892-30,228,906 SLX1B, LOC606724, 54 more genes
    nsv6637633copy number variation1nstd102humanPathogenic GRCh37 chr16: 21,576,803-30,177,240 , GRCh38.p12 chr16: 21,565,482-30,165,919 USP31, CA5AP1, 200 more genes
    nsv6637578copy number variation1nstd102humanPathogenic GRCh37 chr16: 29,622,758-30,240,227 , GRCh38.p12 chr16: 29,611,437-30,228,906 PAGR1, SULT1A3, 43 more genes
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