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Items: 1 to 20 of 203

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5426746copy number variation1nstd206human GRCh38 chr1: 175,183,320-175,195,216 , GRCh37.p13 chr1: 175,152,456-175,164,352 KIAA0040
    nsv5381285copy number variation2nstd102humanUncertain significance GRCh37 chr1: 130,980,840-248,900,000 , GRCh38.p12 chr1: 120,324,463-248,736,699 , DCST1, 2428 more genes
    nsv5364254translocation1nstd200human GRCh38 chr1: 175,198,722-175,198,722 , GRCh38 chr1: 175,192,516-175,192,516 , GRCh37.p13 chr1: 175,167,858-175,167,858 , GRCh37.p13 chr1: 175,161,652-175,161,652 KIAA0040
    nsv5364252translocation1nstd200human GRCh38 chr1: 175,192,516-175,192,516 , GRCh38 chr1: 175,192,652-175,192,652 , GRCh37.p13 chr1: 175,161,652-175,161,652 , GRCh37.p13 chr1: 175,161,788-175,161,788 KIAA0040
    nsv5072286mobile element insertion1nstd203human GRCh38 chr1: 175,176,669-175,176,700 , GRCh37.p13 chr1: 175,145,805-175,145,836 KIAA0040
    nsv4904041copy number variation1nstd200human GRCh38 chr1: 174,996,461-175,514,710 , GRCh37.p13 chr1: 174,965,598-175,483,846 ENTR1P2, LOC105371623, 8 more genes
    nsv4898134copy number variation1nstd200human GRCh38 chr1: 175,192,804-175,198,721 , GRCh37.p13 chr1: 175,161,940-175,167,857 KIAA0040
    nsv4898133copy number variation1nstd200human GRCh38 chr1: 175,187,932-175,192,652 , GRCh37.p13 chr1: 175,157,068-175,161,788 KIAA0040
    nsv4781279copy number variation1nstd200human GRCh37 chr1: 174,965,598-175,483,846 , GRCh38.p12 chr1: 174,996,461-175,514,710 TNR, MRPS14, 8 more genes
    nsv4767860inversion1nstd199human GRCh37 chr1: 17,051,740-234,912,187 , GRCh38.p12 chr1: 16,725,245-234,776,440 , ABCA4, 4269 more genes
    nsv4751400inversion1nstd199human GRCh37 chr1: 17,125,657-234,919,132 , GRCh38.p12 chr1: 16,799,162-234,783,385 , ABCA4, 4264 more genes
    nsv4728270copy number variation1nstd102humanUncertain significance GRCh37 chr1: 174,410,914-178,743,636 , GRCh38.p12 chr1: 174,441,776-178,774,501 LINC01741, MRPS14, 52 more genes
    nsv4728231copy number variation1nstd102humanPathogenic GRCh37 chr1: 173,162,501-182,702,252 , GRCh38.p12 chr1: 173,193,362-182,733,117 KIAA1614, STX6, 166 more genes
    nsv4674280copy number variation1nstd102humanUncertain significance GRCh37 chr1: 174,974,791-177,024,710 , GRCh38.p12 chr1: 175,005,655-177,055,574 ENTR1P2, PTP4A1P7, 20 more genes
    nsv4580003copy number variation1nstd183human GRCh37 chr1: 175,161,934-175,163,375 , GRCh38.p12 chr1: 175,192,798-175,194,239 KIAA0040
    nsv4533018insertion1nstd166human GRCh37.p13 chr1: 175,128,284-175,128,284 , GRCh38.p12 chr1: 175,159,148-175,159,148 KIAA0040
    nsv4436225copy number variation1nstd102humanPathogenic GRCh37 chr1: 172,652,343-183,538,289 , GRCh38.p12 chr1: 172,683,203-183,569,154 KIAA1614-AS1, LOC105371630, 190 more genes
    nsv4346686copy number variation1nstd102humanPathogenic GRCh37 chr1: 169,423,492-180,367,623 , GRCh38.p12 chr1: 169,454,254-180,398,488 TNFSF4, MIR3119-1, 202 more genes
    nsv4346684copy number variation1nstd102humanPathogenic GRCh37 chr1: 160,369,890-175,796,325 , GRCh38.p12 chr1: 160,400,100-175,827,189 LINC00626, RN7SL861P, 359 more genes
    nsv4327204inversion1nstd166human GRCh37.p13 chr1: 156,223,026-186,411,081 , GRCh38.p12 chr1: 156,253,235-186,441,949 , FASLG, 707 more genes
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