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Items: 1 to 20 of 204

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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
    nsv5679553mobile element insertion1nstd211human GRCh38 chr1: 226,380,460-226,380,460 , GRCh37.p13 chr1: 226,568,161-226,568,161 PARP1
    nsv5450600copy number variation1nstd206human GRCh38 chr1: 226,363,846-226,363,926 , GRCh37.p13 chr1: 226,551,547-226,551,627 PARP1
    nsv5406909mobile element insertion1nstd206human GRCh38 chr1: 226,380,460-226,380,511 , GRCh37.p13 chr1: 226,568,161-226,568,212 PARP1
    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
    nsv5291826copy number variation1nstd204human GRCh37.p13 chr1: 226,392,013-226,701,953 , GRCh38.p13 chr1: 226,204,312-226,514,252 PARP1, MIXL1, 7 more genes
    nsv5217237copy number variation1nstd204human GRCh37.p13 chr1: 226,392,402-226,701,501 , GRCh38.p13 chr1: 226,204,701-226,513,800 PARP1, MIXL1, 6 more genes
    nsv5209465copy number variation1nstd204human GRCh38.p13 chr1: 226,387,401-226,424,552 , GRCh37.p13 chr1: 226,575,102-226,612,253 PARP1
    nsv5204645copy number variation1nstd204human GRCh38.p13 chr1: 226,394,851-226,395,950 , GRCh37.p13 chr1: 226,582,552-226,583,651 PARP1
    nsv5198566mobile element insertion1nstd203human GRCh38 chr1: 226,361,027-226,361,027 , GRCh37.p13 chr1: 226,548,728-226,548,728 PARP1
    nsv4904413copy number variation1nstd200human GRCh38 chr1: 226,204,600-226,513,958 , GRCh37.p13 chr1: 226,392,301-226,701,659 MIXL1, PARP1, 6 more genes
    nsv4899065copy number variation1nstd200human GRCh38 chr1: 226,393,265-226,398,645 , GRCh37.p13 chr1: 226,580,966-226,586,346 PARP1
    nsv4899063copy number variation1nstd200human GRCh38 chr1: 226,356,984-226,359,289 , GRCh37.p13 chr1: 226,544,685-226,546,990 PARP1
    nsv4774645copy number variation1nstd200human GRCh37 chr1: 226,544,685-226,546,990 , GRCh38.p12 chr1: 226,356,984-226,359,289 PARP1
    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
    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
    nsv4674157copy number variation1nstd102humanPathogenic GRCh37 chr1: 222,641,389-228,137,574 , GRCh38.p12 chr1: 222,468,047-227,949,873 SRP9, AKR1B1P1, 123 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
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