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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv6112661copy number variation1nstd102humanPathogenic GRCh37 chr1: 231,407,943-237,289,859 , GRCh38.p12 chr1: 231,272,197-237,126,559 LOC105373207, LOC105373210, 113 more genes
    nsv5972650inversion1nstd209human GRCh38 chr1: 229,174,728-232,234,598 , GRCh37.p13 chr1: 229,310,475-232,370,344 , ACTA1, 68 more genes
    nsv5971633inversion1nstd209human GRCh38 chr1: 229,416,331-231,831,980 , GRCh37.p13 chr1: 229,552,078-231,967,726 , ACTA1, 56 more genes
    nsv5829479copy number variation1nstd209human GRCh38 chr1: 231,353,631-231,355,880 , GRCh37.p13 chr1: 231,489,377-231,491,626 SPRTN
    nsv5452495copy number variation1nstd206human GRCh38 chr1: 231,337,879-231,338,236 , GRCh37.p13 chr1: 231,473,625-231,473,982 SPRTN, EXOC8
    nsv5451174copy number variation1nstd206human GRCh38 chr1: 231,343,996-231,346,581 , GRCh37.p13 chr1: 231,479,742-231,482,327 SPRTN
    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
    nsv5208293copy number variation1nstd204human GRCh38.p13 chr1: 231,336,560-231,339,107 , GRCh37.p13 chr1: 231,472,306-231,474,853 SPRTN, EXOC8
    nsv4899236copy number variation1nstd200human GRCh38 chr1: 231,351,756-231,351,957 , GRCh37.p13 chr1: 231,487,502-231,487,703 SPRTN
    nsv4785258copy number variation1nstd200human GRCh37 chr1: 231,479,742-231,482,327 , GRCh38.p12 chr1: 231,343,996-231,346,581 SPRTN
    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
    nsv4674170copy number variation1nstd102humanPathogenic GRCh37 chr1: 228,832,737-240,993,877 , GRCh38.p12 chr1: 228,696,990-240,830,577 LOC105373224, NUP133-DT, 208 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
    nsv4674115copy number variation1nstd102humanPathogenic GRCh37 chr1: 223,653,722-234,591,807 , GRCh38.p12 chr1: 223,480,380-234,456,061 LOC105373163, CDC42BPA, 258 more genes
    nsv4460905mobile element insertion1nstd166human GRCh37.p13 chr1: 231,479,807-231,479,807 , GRCh38.p12 chr1: 231,344,061-231,344,061 SPRTN
    nsv4450583copy number variation1nstd102humanPathogenic GRCh37 chr1: 182,388,773-249,111,240 , GRCh38.p12 chr1: 182,419,638-248,817,041 RGS18, LINC02257, 1186 more genes
    nsv4058945copy number variation1nstd166human GRCh37.p13 chr1: 231,486,447-231,486,521 , GRCh38.p12 chr1: 231,350,701-231,350,775 SPRTN
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