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Items: 1 to 20 of 142

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5620585insertion1nstd207human GRCh38 chr2: 46,483,875-46,483,875 , GRCh37.p13 chr2: 46,711,014-46,711,014 TMEM247
    nsv5554214mobile element insertion1nstd206human GRCh38 chr2: 43,826,578-177,947,868 , GRCh37.p13 chr2: 44,053,717-178,812,595 , POLR1B, 2149 more genes
    nsv5439723copy number variation1nstd206human GRCh38 chr2: 46,441,239-46,513,224 , GRCh37.p13 chr2: 46,668,378-46,740,363 RN7SL817P, ATP6V1E2, 2 more genes
    nsv5436484copy number variation1nstd206human GRCh38 chr2: 46,478,123-46,479,760 , GRCh37.p13 chr2: 46,705,262-46,706,899 TMEM247
    nsv4908621copy number variation1nstd200human GRCh38 chr2: 46,484,270-46,704,600 , GRCh37.p13 chr2: 46,711,409-46,931,739 TMEM247, RHOQ-AS1, 6 more genes
    nsv4908619copy number variation1nstd200human GRCh38 chr2: 46,310,710-46,543,929 , GRCh37.p13 chr2: 46,537,849-46,771,068 TMEM247, LINC01820, 5 more genes
    nsv4908618copy number variation1nstd200human GRCh38 chr2: 46,160,490-47,827,162 , GRCh37.p13 chr2: 46,387,629-48,054,301 , PRKCE, 38 more genes
    nsv4907884copy number variation1nstd200human GRCh38 chr2: 46,478,123-46,479,760 , GRCh37.p13 chr2: 46,705,262-46,706,899 TMEM247
    nsv4907883copy number variation1nstd200human GRCh38 chr2: 46,469,223-46,483,915 , GRCh37.p13 chr2: 46,696,362-46,711,054 TMEM247
    nsv4786265copy number variation1nstd200human GRCh37 chr2: 46,705,262-46,706,899 , GRCh38.p12 chr2: 46,478,123-46,479,760 TMEM247
    nsv4786264copy number variation1nstd200human GRCh37 chr2: 46,696,362-46,711,054 , GRCh38.p12 chr2: 46,469,223-46,483,915 TMEM247
    nsv4786262copy number variation1nstd200human GRCh37 chr2: 46,668,378-46,740,363 , GRCh38.p12 chr2: 46,441,239-46,513,224 ATP6V1E2, RN7SL817P, 2 more genes
    nsv4674640copy number variation1nstd102humanUncertain significance GRCh37 chr2: 46,179,259-47,646,894 , GRCh38.p12 chr2: 45,952,120-47,419,755 PRKCE, STPG4, 30 more genes
    nsv4397930copy number variation1nstd174human GRCh37 chr2: 46,668,106-46,747,072 , GRCh38.p12 chr2: 46,440,967-46,519,933 LINC02583, ATP6V1E2, 2 more genes
    nsv4335876sequence alteration1nstd166human GRCh37.p13 chr2: 20,021,666-53,788,063 , GRCh38.p12 chr2: 19,821,905-53,560,926 , ADCY3, 531 more genes
    nsv4331174inversion1nstd166human GRCh37.p13 chr2: 36,139,982-53,112,348 , GRCh38.p12 chr2: 35,914,916-52,885,210 , ASS1P2, 247 more genes
    nsv4069261copy number variation1nstd166human GRCh37.p13 chr2: 46,530,042-46,797,437 , GRCh38.p12 chr2: 46,302,903-46,570,298 EPAS1, RHOQ, 6 more genes
    nsv4055593copy number variation1nstd166human GRCh37.p13 chr2: 46,704,700-46,711,000 , GRCh38.p12 chr2: 46,477,561-46,483,861 TMEM247
    nsv4054847copy number variation1nstd166human GRCh37.p13 chr2: 46,705,262-46,706,899 , GRCh38.p12 chr2: 46,478,123-46,479,760 TMEM247
    nsv3919677inversion1nstd102humanPathogenic GRCh38.p12 chr2: 37,893,967-47,442,383 , GRCh37 chr2: 38,121,110-47,669,522 ASS1P2, BCYRN1, 151 more genes
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