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Items: 1 to 20 of 160

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5719124mobile element insertion2nstd211human GRCh38 chr1: 213,011,897-213,011,897 , GRCh37.p13 chr1: 213,185,239-213,185,239 ANGEL2
    nsv5560883mobile element insertion1nstd206human GRCh38 chr1: 213,011,897-213,011,948 , GRCh37.p13 chr1: 213,185,239-213,185,290 ANGEL2
    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
    nsv5373631translocation1nstd200human GRCh38 chr1: 212,990,867-212,990,867 , GRCh38 chr1: 212,989,436-212,989,436 , GRCh37.p13 chr1: 213,164,209-213,164,209 , GRCh37.p13 chr1: 213,162,778-213,162,778 ANGEL2, VASH2
    nsv5334474translocation1nstd200human GRCh37 chr1: 213,162,778-213,162,778 , GRCh37 chr1: 213,164,209-213,164,209 , GRCh38.p12 chr1: 212,989,436-212,989,436 , GRCh38.p12 chr1: 212,990,867-212,990,867 ANGEL2, VASH2
    nsv5216264copy number variation1nstd204human GRCh38.p13 chr1: 213,016,332-213,021,180 , GRCh37.p13 chr1: 213,189,674-213,194,522 ANGEL2
    nsv5206643copy number variation1nstd204human GRCh38.p13 chr1: 213,016,001-213,023,400 , GRCh37.p13 chr1: 213,189,343-213,196,742 ANGEL2
    nsv4904327copy number variation1nstd200human GRCh38 chr1: 212,924,264-213,271,659 , GRCh37.p13 chr1: 213,097,606-213,445,002 VASH2, ANGEL2, 1 more genes
    nsv4781433copy number variation1nstd200human GRCh37 chr1: 213,097,606-213,445,002 , GRCh38.p12 chr1: 212,924,264-213,271,659 RPS6KC1, ANGEL2, 1 more genes
    nsv4774294copy number variation1nstd200human GRCh37 chr1: 213,182,578-213,182,967 , GRCh38.p12 chr1: 213,009,236-213,009,625 ANGEL2
    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
    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
    nsv4683155copy number variation1nstd102humanUncertain significance GRCh37 chr1: 213,031,795-213,170,660 , GRCh38.p12 chr1: 212,858,453-212,997,318 FLVCR1-DT, VASH2, 2 more genes
    nsv4674140copy number variation1nstd102humanPathogenic GRCh37 chr1: 204,045,948-249,218,992 , GRCh38.p12 chr1: 204,076,820-248,924,793 RNA5S8, NTPCR, 893 more genes
    nsv4518300copy number variation1nstd166human GRCh37.p13 chr1: 213,176,075-213,176,708 , GRCh38.p12 chr1: 213,002,733-213,003,366 ANGEL2
    nsv4517771copy number variation1nstd166human GRCh37.p13 chr1: 213,182,578-213,182,967 , GRCh38.p12 chr1: 213,009,236-213,009,625 ANGEL2
    nsv4517477copy number variation1nstd166human GRCh37.p13 chr1: 213,169,505-213,169,832 , GRCh38.p12 chr1: 212,996,163-212,996,490 ANGEL2
    nsv4516715copy number variation1nstd166human GRCh37.p13 chr1: 207,930,080-214,726,645 , GRCh38.p12 chr1: 207,756,735-214,553,302 , UTP25, 121 more genes
    nsv4452160copy number variation1nstd102humanUncertain significance GRCh37 chr1: 206,329,070-213,263,817 , GRCh38.p12 chr1: 206,308,879-213,090,475 CDCA4P4, LOC105372889, 146 more genes
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