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Items: 1 to 20 of 635

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7137045copy number variation1nstd102humanPathogenic GRCh37 chr1: 536,777-6,012,896 , GRCh38.p12 chr1: 601,397-5,952,836 MIR200B, LOC105378608, 172 more genes
    nsv7099018copy number variation1nstd102humanPathogenic GRCh37 chr1: 1-2,580,976 , GRCh38.p12 chr1: 10,001-2,649,537 DVL1, LOC100129534, 148 more genes
    nsv7096064copy number variation1nstd102humanUncertain significance GRCh37 chr1: 861,322-948,976 , GRCh38.p12 chr1: 925,942-1,013,596 HES4, PERM1, 6 more genes
    nsv7054612inversion1nstd229human GRCh38 chr1: 972,727-1,033,183 , GRCh37.p13 chr1: 908,107-968,563 PLEKHN1, PERM1, 4 more genes
    nsv7050001inversion1nstd229human GRCh38 chr1: 987,061-1,079,323 , GRCh37.p13 chr1: 922,441-1,014,703 LOC100288175, RNF223, 5 more genes
    nsv6658041copy number variation1nstd229human GRCh38 chr1: 989,189-1,068,550 , GRCh37.p13 chr1: 924,569-1,003,930 HES4, AGRN, 4 more genes
    nsv6658013copy number variation1nstd229human GRCh38 chr1: 980,590-1,074,345 , GRCh37.p13 chr1: 915,970-1,009,725 LOC105378948, RNF223, 6 more genes
    nsv6657952copy number variation1nstd229human GRCh38 chr1: 987,901-1,026,800 , GRCh37.p13 chr1: 923,281-962,180 ISG15, HES4, 2 more genes
    nsv6657906copy number variation1nstd229human GRCh38 chr1: 998,176-1,020,513 , GRCh37.p13 chr1: 933,556-955,893 HES4, AGRN, 2 more genes
    nsv6657199copy number variation1nstd229human GRCh38 chr1: 926,615-1,239,899 , GRCh37.p13 chr1: 861,995-1,175,279 TTLL10-AS1, MIR200B, 21 more genes
    nsv6656705copy number variation1nstd229human GRCh38 chr1: 872,040-1,151,798 , GRCh37.p13 chr1: 807,420-1,087,178 C1orf159, LOC105378948, 17 more genes
    nsv6656432copy number variation1nstd229human GRCh38 chr1: 860,901-1,011,800 , GRCh37.p13 chr1: 796,281-947,180 NOC2L, LOC284600, 12 more genes
    nsv6656142copy number variation1nstd229human GRCh38 chr1: 838,653-1,166,615 , GRCh37.p13 chr1: 774,033-1,101,995 LINC01128, SAMD11, 21 more genes
    nsv6655873copy number variation1nstd229human GRCh38 chr1: 829,470-1,107,141 , GRCh37.p13 chr1: 764,850-1,042,521 LOC107985728, PERM1, 18 more genes
    nsv6655052copy number variation1nstd229human GRCh38 chr1: 818,999-1,165,510 , GRCh37.p13 chr1: 754,379-1,100,890 HES4, LOC105378948, 22 more genes
    nsv6637093copy number variation1nstd102humanPathogenic GRCh37 chr1: 849,467-12,448,956 , GRCh38.p12 chr1: 914,087-12,388,897 VWA1, CEP104, 311 more genes
    nsv6636416copy number variation1nstd102humanUncertain significance GRCh37 chr1: 849,467-1,174,365 , GRCh38.p12 chr1: 914,087-1,238,985 RNF223, SAMD11, 24 more genes
    nsv6636292copy number variation1nstd102humanPathogenic GRCh37 chr1: 849,467-2,972,435 , GRCh38.p12 chr1: 914,087-3,055,871 LOC105378602, LOC105378599, 108 more genes
    nsv6626486copy number variation1nstd224human GRCh37 chr1: 934,735-977,396 , GRCh38.p12 chr1: 999,355-1,042,016 AGRN, HES4, 2 more genes
    nsv6626408copy number variation1nstd224human GRCh37 chr1: 901,922-1,040,026 , GRCh38.p12 chr1: 966,542-1,104,646 ISG15, C1orf159, 8 more genes
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