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Items: 1 to 20 of 651

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7147057insertion1nstd232human GRCh37.p13 chr1: 1,004,204-1,004,204 , GRCh38.p12 chr1: 1,068,824-1,068,824 LOC105378948
    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
    nsv7096012copy number variation1nstd102humanUncertain significance GRCh37 chr1: 980,719-1,168,648 , GRCh38.p12 chr1: 1,045,339-1,233,268 SDF4, TNFRSF18, 13 more genes
    nsv7051879inversion1nstd229human GRCh38 chr1: 1,067,356-1,072,544 , GRCh37.p13 chr1: 1,002,736-1,007,924 LOC105378948, RNF223
    nsv7050001inversion1nstd229human GRCh38 chr1: 987,061-1,079,323 , GRCh37.p13 chr1: 922,441-1,014,703 LOC100288175, RNF223, 5 more genes
    nsv7046830inversion1nstd229human GRCh38 chr1: 1,031,989-1,075,884 , GRCh37.p13 chr1: 967,369-1,011,264 LOC100288175, RNF223, 2 more genes
    nsv7040598inversion1nstd229human GRCh38 chr1: 1,016,054-1,174,806 , GRCh37.p13 chr1: 951,434-1,110,186 MIR200A, LINC01342, 9 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
    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
    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
    nsv6639433copy number variation1nstd229human GRCh38 chr1: 1,066,401-1,072,500 , GRCh37.p13 chr1: 1,001,781-1,007,880 LOC105378948, LOC100288175, 1 more genes
    nsv6638785copy number variation1nstd229human GRCh38 chr1: 1,047,218-1,147,666 , GRCh37.p13 chr1: 982,598-1,083,046 C1orf159, LOC100288175, 4 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
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