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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv6112757copy number variation1nstd102humanPathogenic GRCh37 chr2: 220,056,891-227,164,817 , GRCh38.p12 chr2: 219,192,169-226,300,101 DES, SPEG, 100 more genes
    nsv5891459copy number variation1nstd209human GRCh38 chr2: 222,243,134-222,243,445 , GRCh37.p13 chr2: 223,107,853-223,108,164 PAX3
    nsv5725722mobile element insertion1nstd211human GRCh38 chr2: 222,232,641-222,232,641 , GRCh37.p13 chr2: 223,097,360-223,097,360 PAX3
    nsv5682356mobile element insertion1nstd211human GRCh38 chr2: 222,266,496-222,266,496 , GRCh37.p13 chr2: 223,131,215-223,131,215 PAX3
    nsv5560580sequence alteration1nstd206human GRCh38 chr2: 151,447,581-231,256,535 , GRCh37.p13 chr2: 152,304,095-232,121,248 , ATIC, 1163 more genes
    nsv5550268insertion1nstd206human GRCh38 chr2: 222,266,496-222,266,528 , GRCh37.p13 chr2: 223,131,215-223,131,247 PAX3
    nsv5449147copy number variation1nstd206human GRCh38 chr2: 222,259,899-222,259,954 , GRCh37.p13 chr2: 223,124,618-223,124,673 PAX3
    nsv5307510copy number variation1nstd204human GRCh38.p13 chr2: 222,260,854-222,263,672 , GRCh37.p13 chr2: 223,125,573-223,128,391 PAX3
    nsv5218917copy number variation1nstd204human GRCh38.p13 chr2: 222,260,622-222,263,694 , GRCh37.p13 chr2: 223,125,341-223,128,413 PAX3
    nsv5179471mobile element insertion1nstd203human GRCh38 chr2: 222,287,442-222,287,456 , GRCh37.p13 chr2: 223,152,161-223,152,175 PAX3
    nsv5077848mobile element insertion1nstd203human GRCh38 chr2: 222,205,695-222,205,711 , GRCh37.p13 chr2: 223,070,414-223,070,430 PAX3
    nsv5069076mobile element insertion1nstd203human GRCh38 chr2: 222,252,145-222,252,160 , GRCh37.p13 chr2: 223,116,864-223,116,879 PAX3
    nsv5065625mobile element insertion1nstd203human GRCh38 chr2: 222,266,477-222,266,496 , GRCh37.p13 chr2: 223,131,196-223,131,215 PAX3
    nsv5065587mobile element insertion1nstd203human GRCh38 chr2: 222,255,917-222,255,940 , GRCh37.p13 chr2: 223,120,636-223,120,659 PAX3
    nsv5038383inversion1nstd200human GRCh38 chr2: 222,072,838-224,063,267 , GRCh37.p13 chr2: 222,937,557-224,927,984 GAPDHP49, ACSL3-AS1, 31 more genes
    nsv4917044copy number variation1nstd200human GRCh38 chr2: 222,292,640-222,293,326 , GRCh37.p13 chr2: 223,157,359-223,158,045 PAX3
    nsv4885260inversion1nstd200human GRCh37 chr2: 222,937,557-224,927,984 , GRCh38.p12 chr2: 222,072,838-224,063,267 CCDC140, WDFY1, 31 more genes
    nsv4806023copy number variation1nstd200human GRCh37 chr2: 223,107,853-223,108,170 , GRCh38.p12 chr2: 222,243,134-222,243,451 PAX3
    nsv4728725copy number variation1nstd102humanPathogenic GRCh37 chr2: 178,397,959-243,007,457 , GRCh38.p12 chr2: 177,533,231-242,065,306 LOC105376755, FZD7, 1013 more genes
    nsv4728510copy number variation1nstd102humanPathogenic GRCh37 chr2: 222,621,434-224,754,689 , GRCh38.p12 chr2: 221,756,714-223,889,972 LOC105373905, LOC105373902, 32 more genes
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