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Items: 1 to 20 of 159

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7096876copy number variation1nstd102humanUncertain significance GRCh37 chr2: 46,525,051-46,851,366 , GRCh38.p12 chr2: 46,297,912-46,624,227 TMEM247, CRIPT, 8 more genes
    nsv7096653copy number variation1nstd102humanUncertain significance GRCh37 chr2: 38,121,051-47,710,088 , GRCh38.p12 chr2: 37,893,908-47,482,949 PLEKHH2, RNU6-566P, 151 more genes
    nsv7039759inversion1nstd229human GRCh38 chr2: 39,986,388-47,339,194 , GRCh37.p13 chr2: 40,213,528-47,566,333 RPL36AP14, CRIPT, 105 more genes
    nsv6676240copy number variation1nstd229human GRCh38 chr2: 46,456,407-46,480,330 , GRCh37.p13 chr2: 46,683,546-46,707,469 TMEM247
    nsv6675713copy number variation1nstd229human GRCh38 chr2: 46,469,223-46,483,915 , GRCh37.p13 chr2: 46,696,362-46,711,054 TMEM247
    nsv6671921copy number variation1nstd229human GRCh38 chr2: 46,310,701-46,704,700 , GRCh37.p13 chr2: 46,537,840-46,931,839 SOCS5, LINC02583, 10 more genes
    nsv6667251copy number variation1nstd229human GRCh38 chr2: 46,478,123-46,479,763 , GRCh37.p13 chr2: 46,705,262-46,706,902 TMEM247
    nsv6662809copy number variation1nstd229human GRCh38 chr2: 46,464,801-46,510,600 , GRCh37.p13 chr2: 46,691,940-46,737,739 TMEM247, ATP6V1E2
    nsv6662581copy number variation1nstd229human GRCh38 chr2: 46,482,401-46,496,600 , GRCh37.p13 chr2: 46,709,540-46,723,739 TMEM247
    nsv6662084copy number variation1nstd229human GRCh38 chr2: 46,444,032-46,482,359 , GRCh37.p13 chr2: 46,671,171-46,709,498 TMEM247, RN7SL817P
    nsv6634330copy number variation1nstd102humanPathogenic GRCh37 chr2: 11,504,318-111,365,996 , GRCh38.p12 chr2: 11,364,192-110,608,419 CYP1B1-AS1, LOC107985771, 1649 more genes
    nsv6315390copy number variation1nstd102humanPathogenic GRCh37 chr2: 1-243,199,373 , GRCh38.p12 chr2: 10,001-242,157,305 LOC112268439, RNA5SP116, 3737 more genes
    nsv6314726copy number variation1nstd102humanLikely pathogenic GRCh37 chr2: 40,607,042-146,902,764 , GRCh38.p12 chr2: 40,379,902-146,145,196 ACTG2, ACYP2, 1713 more genes
    nsv6134459copy number variation1nstd213human GRCh37 chr2: 40,080,000-50,820,001 , GRCh38.p12 chr2: 39,852,860-50,592,863 , BCYRN1, 149 more genes
    nsv6134458copy number variation2nstd213human GRCh37 chr2: 38,440,000-47,670,001 , GRCh38.p12 chr2: 38,212,858-47,442,862 ASS1P2, BCYRN1, 144 more genes
    nsv6134457copy number variation1nstd213human GRCh37 chr2: 38,410,000-75,540,001 , GRCh38.p12 chr2: 38,182,858-75,312,875 , ACTG2, 598 more genes
    nsv6056536insertion1nstd212human GRCh38 chr2: 46,480,706-46,480,706 , GRCh37.p13 chr2: 46,707,845-46,707,845 TMEM247
    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
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