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Items: 1 to 20 of 376

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5672551copy number variation1nstd102humanPathogenic GRCh37 chr11: 118,899,922-118,900,089 , GRCh38.p12 chr11: 119,029,212-119,029,379 , GRCh38.p12 chr11|NW_009646203.1: 50,811-50,978 SLC37A4
    nsv5389514copy number variation2nstd186human GRCh37 chr11: 118,902,218-118,904,126 , GRCh38.p12 chr11|NW_009646203.1: 53,107-55,015 , GRCh38.p12 chr11: 119,031,508-119,033,416 0
    nsv5344980translocation1nstd200human GRCh37 chr11: 118,909,235-118,909,235 , GRCh37 chr11: 118,912,395-118,912,395 , GRCh38.p12 chr11: 119,038,525-119,038,525 , GRCh38.p12 chr11: 119,041,685-119,041,685 , GRCh38.p12 chr11|NW_009646203.1: 60,124-60,124 , GRCh38.p12 chr11|NW_009646203.1: 63,284-63,284 0
    nsv5339563translocation1nstd200human GRCh37 chr11: 118,921,364-118,921,364 , GRCh37 chr11: 118,921,289-118,921,289 , GRCh38.p12 chr11: 119,050,577-119,050,577 , GRCh38.p12 chr11: 119,050,652-119,050,652 , GRCh38.p12 chr11|NW_009646203.1: 72,176-72,176 , GRCh38.p12 chr11|NW_009646203.1: 72,251-72,251 HYOU1
    nsv5331468translocation1nstd200human GRCh37 chr11: 118,899,545-118,899,545 , GRCh37 chr11: 118,899,930-118,899,930 , GRCh38.p12 chr11: 119,028,835-119,028,835 , GRCh38.p12 chr11: 119,029,220-119,029,220 , GRCh38.p12 chr11|NW_009646203.1: 50,434-50,434 , GRCh38.p12 chr11|NW_009646203.1: 50,819-50,819 SLC37A4
    nsv5330481translocation1nstd200human GRCh37 chr11: 118,901,567-118,901,567 , GRCh37 chr9: 71,611,374-71,611,374 , GRCh38.p12 chr11: 119,030,857-119,030,857 , GRCh38.p12 chr9: 68,996,458-68,996,458 , GRCh38.p12 chr11|NW_009646203.1: 52,456-52,456 SLC37A4, PIP5K1B
    nsv4848666copy number variation1nstd200human GRCh37 chr11: 118,871,372-118,871,931 , GRCh38.p12 chr11: 119,000,662-119,001,221 , GRCh38.p12 chr11|NW_009646203.1: 22,262-22,821 RPL23AP64, CENATAC
    nsv4847519copy number variation1nstd200human GRCh37 chr11: 118,855,152-118,865,830 , GRCh38.p12 chr11: 118,984,442-118,995,120 , GRCh38.p12 chr11|NW_009646203.1: 6,042-16,720 CENATAC-DT
    nsv4837610copy number variation1nstd200human GRCh37 chr11: 118,902,218-118,904,127 , GRCh38.p12 chr11|NW_009646203.1: 53,107-55,016 , GRCh38.p12 chr11: 119,031,508-119,033,417 0
    nsv4837111copy number variation1nstd200human GRCh37 chr11: 118,938,402-118,938,479 , GRCh38.p12 chr11: 119,067,691-119,067,768 , GRCh38.p12 chr11|NW_009646203.1: 89,290-89,367 VPS11
    nsv4837106copy number variation1nstd200human GRCh37 chr11: 118,879,987-118,884,328 , GRCh38.p12 chr11: 119,009,277-119,013,618 , GRCh38.p12 chr11|NW_009646203.1: 30,877-35,218 CENATAC
    nsv4836695copy number variation1nstd200human GRCh37 chr11: 118,877,356-118,878,027 , GRCh38.p12 chr11: 119,006,646-119,007,317 , GRCh38.p12 chr11|NW_009646203.1: 28,246-28,917 CENATAC
    nsv4830415copy number variation1nstd200human GRCh37 chr11: 118,934,419-118,935,806 , GRCh38.p12 chr11: 119,063,708-119,065,095 , GRCh38.p12 chr11|NW_009646203.1: 85,307-86,694 0
    nsv4758292insertion1nstd199human GRCh37 chr11: 118,880,152-118,880,152 , GRCh38.p12 chr11: 119,009,442-119,009,442 , GRCh38.p12 chr11|NW_009646203.1: 31,042-31,042 CENATAC
    nsv4726474insertion1nstd186human GRCh37 chr11: 118,880,149-118,880,149 , GRCh38.p12 chr11: 119,009,439-119,009,439 , GRCh38.p12 chr11|NW_009646203.1: 31,039-31,039 CENATAC
    nsv4682817copy number variation1nstd102humanUncertain significance GRCh37 chr11: 118,895,600-118,972,385 , GRCh38.p12 chr11|NW_009646203.1: 46,490-108,875 , GRCh38.p12 chr11: 119,024,890-119,101,675 VPS11, HMBS, 4 more genes
    nsv4682264copy number variation1nstd102humanPathogenic GRCh37 chr11: 118,895,610-118,900,089 , GRCh38.p12 chr11: 119,024,900-119,029,379 , GRCh38.p12 chr11|NW_009646203.1: 46,500-50,978 SLC37A4
    nsv4681513copy number variation1nstd102humanPathogenic GRCh37 chr11: 118,955,323-118,956,445 , GRCh38.p12 chr11: 119,084,613-119,085,735 , GRCh38.p12 chr11|NW_009646203.1: 106,212-107,334 HMBS
    nsv4669948copy number variation1nstd186human GRCh37 chr11: 118,902,190-118,904,191 , GRCh38.p12 chr11: 119,031,480-119,033,481 , GRCh38.p12 chr11|NW_009646203.1: 53,079-55,080 0
    nsv4645439copy number variation1nstd186human GRCh37 chr11: 118,902,217-118,904,172 , GRCh38.p12 chr11: 119,031,507-119,033,462 , GRCh38.p12 chr11|NW_009646203.1: 53,106-55,061 0
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