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Items: 1 to 20 of 215

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5884342copy number variation1nstd209human GRCh38 chr1: 221,964,560-227,275,238 , GRCh37.p13 chr1: 222,137,902-227,462,939 , YBX1P9, 111 more genes
    nsv5829454copy number variation1nstd209human GRCh38 chr1: 222,509,099-222,518,946 , GRCh37.p13 chr1: 222,682,441-222,692,288 HHIPL2
    nsv5829370copy number variation1nstd209human GRCh38 chr1: 222,509,049-222,511,155 , GRCh37.p13 chr1: 222,682,391-222,684,497 HHIPL2
    nsv5577293copy number variation1nstd207human GRCh38 chr1: 222,503,052-222,503,195 , GRCh37.p13 chr1: 222,676,394-222,676,537 RNU6-791P, HHIPL2
    nsv5566292copy number variation1nstd207human GRCh38 chr1: 222,504,480-222,504,558 , GRCh37.p13 chr1: 222,677,822-222,677,900 HHIPL2
    nsv5566285copy number variation1nstd207human GRCh38 chr1: 222,520,968-222,521,259 , GRCh37.p13 chr1: 222,694,310-222,694,601 HHIPL2
    nsv5451982copy number variation1nstd206human GRCh38 chr1: 222,508,587-222,520,587 , GRCh37.p13 chr1: 222,681,929-222,693,929 HHIPL2
    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
    nsv5348410translocation1nstd200human GRCh38 chr1: 222,538,466-222,538,466 , GRCh38 chr1: 222,536,870-222,536,870 , GRCh37.p13 chr1: 222,710,212-222,710,212 , GRCh37.p13 chr1: 222,711,808-222,711,808 HHIPL2
    nsv5284094copy number variation1nstd204human GRCh38.p13 chr1: 222,536,846-222,538,490 , GRCh37.p13 chr1: 222,710,188-222,711,832 HHIPL2
    nsv4898896copy number variation1nstd200human GRCh38 chr1: 222,533,737-222,533,968 , GRCh37.p13 chr1: 222,707,079-222,707,310 HHIPL2
    nsv4898895copy number variation1nstd200human GRCh38 chr1: 222,518,356-222,529,872 , GRCh37.p13 chr1: 222,691,698-222,703,214 HHIPL2
    nsv4898894copy number variation1nstd200human GRCh38 chr1: 222,515,502-222,516,622 , GRCh37.p13 chr1: 222,688,844-222,689,964 HHIPL2
    nsv4774520copy number variation1nstd200human GRCh37 chr1: 222,710,212-222,711,808 , GRCh38.p12 chr1: 222,536,870-222,538,466 HHIPL2
    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
    nsv4728176copy number variation1nstd102humanPathogenic GRCh37 chr1: 222,605,125-224,696,628 , GRCh38.p12 chr1: 222,431,783-224,508,926 SEPTIN7P13, LOC101927164, 52 more genes
    nsv4684187copy number variation1nstd102humanPathogenic GRCh37 chr1: 210,152,794-249,218,992 , GRCh38.p12 chr1: 209,979,449-248,924,793 HLX-AS1, OPN3, 740 more genes
    nsv4674785copy number variation1nstd102humanPathogenic GRCh37 chr1: 219,916,966-239,004,378 , GRCh38.p12 chr1: 219,743,624-238,841,078 RPL23AP23, LOC101927143, 414 more genes
    nsv4674721copy number variation1nstd102humanPathogenic GRCh37 chr1: 219,734,913-224,104,993 , GRCh38.p12 chr1: 219,561,571-223,917,291 PRELID3BP1, RNU6-403P, 82 more genes
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