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Items: 1 to 20 of 126

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7148056copy number variation1nstd102humanPathogenic GRCh37 chr2: 186,698,504-223,918,111 , GRCh38.p12 chr2: 185,833,777-223,053,393 DNAJB1P1, MTCO2P17, 580 more genes
    nsv7048316inversion1nstd229human GRCh38 chr2: 217,690,925-222,070,373 , GRCh37.p13 chr2: 218,555,648-222,935,092 LOC105373895, CXCR2P1, 119 more genes
    nsv6346585copy number variation1nstd223human GRCh38 chr2: 219,120,801-219,643,000 , GRCh37.p13 chr2: 219,985,523-220,507,722 OBSL1, DNAJB2, 32 more genes
    nsv6343381copy number variation1nstd223human GRCh38 chr2: 219,100,201-219,804,900 , GRCh37.p13 chr2: 219,964,923-220,669,621 CHPF, TMEM198, 38 more genes
    nsv6342697copy number variation1nstd223human GRCh38 chr2: 219,642,401-219,644,500 , GRCh37.p13 chr2: 220,507,123-220,509,222 SLC4A3
    nsv6315390copy number variation1nstd102humanPathogenic GRCh37 chr2: 1-243,199,373 , GRCh38.p12 chr2: 10,001-242,157,305 LOC112268439, RNA5SP116, 3737 more genes
    nsv6313686copy number variation1nstd102humanPathogenic GRCh37 chr2: 215,108,009-221,679,980 , GRCh38.p12 chr2: 214,243,285-220,815,260 BCS1L, LOC105373880, 160 more genes
    nsv6313668copy number variation1nstd102humanPathogenic GRCh37 chr2: 219,606,537-239,217,703 , GRCh38.p12 chr2: 218,741,814-238,309,062 LOC105373947, RN7SL764P, 357 more genes
    nsv6134651copy number variation1nstd213human GRCh37 chr2: 220,280,000-220,570,001 , GRCh38.p12 chr2: 219,415,278-219,705,279 DES, INHA, 14 more genes
    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
    nsv5560580sequence alteration1nstd206human GRCh38 chr2: 151,447,581-231,256,535 , GRCh37.p13 chr2: 152,304,095-232,121,248 , ATIC, 1163 more genes
    nsv5304679copy number variation1nstd204human GRCh38.p13 chr2: 219,642,417-219,644,493 , GRCh37.p13 chr2: 220,507,139-220,509,215 SLC4A3
    nsv5213486copy number variation1nstd204human GRCh38.p13 chr2: 219,642,301-219,644,500 , GRCh37.p13 chr2: 220,507,023-220,509,222 SLC4A3
    nsv5209865copy number variation1nstd204human GRCh38.p13 chr2: 219,642,136-219,644,443 , GRCh37.p13 chr2: 220,506,858-220,509,165 SLC4A3
    nsv4916947copy number variation1nstd200human GRCh38 chr2: 219,642,381-219,644,554 , GRCh37.p13 chr2: 220,507,103-220,509,276 SLC4A3
    nsv4913956copy number variation1nstd200human GRCh38 chr2: 219,642,309-219,644,559 , GRCh37.p13 chr2: 220,507,031-220,509,281 SLC4A3
    nsv4805974copy number variation1nstd200human GRCh37 chr2: 220,507,135-220,509,225 , GRCh38.p12 chr2: 219,642,413-219,644,503 SLC4A3
    nsv4804633copy number variation1nstd200human GRCh37 chr2: 220,507,030-220,509,280 , GRCh38.p12 chr2: 219,642,308-219,644,558 SLC4A3
    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
    nsv4673965copy number variation1nstd102humanPathogenic GRCh37 chr2: 216,883,237-220,953,003 , GRCh38.p12 chr2: 216,018,514-220,088,282 LOC105373887, STK11IP, 138 more genes
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