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Items: 1 to 20 of 171

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7053995inversion1nstd229human GRCh38 chr2: 99,160,352-99,175,398 , GRCh37.p13 chr2: 99,776,815-99,791,861 MITD1, LIPT1
    nsv7051246inversion1nstd229human GRCh38 chr2: 99,001,430-99,852,801 , GRCh37.p13 chr2: 99,617,893-100,469,263 EIF5B, MITD1, 12 more genes
    nsv6689527copy number variation1nstd229human GRCh38 chr2: 99,163,501-99,166,600 , GRCh37.p13 chr2: 99,779,964-99,783,063 MITD1, LIPT1
    nsv6687006copy number variation1nstd229human GRCh38 chr2: 99,106,429-99,166,652 , GRCh37.p13 chr2: 99,722,892-99,783,115 C2orf15, MITD1, 2 more genes
    nsv6681206copy number variation1nstd229human GRCh38 chr2: 99,177,793-99,328,393 , GRCh37.p13 chr2: 99,794,256-99,944,856 MRPL30, LYG1, 4 more genes
    nsv6679675copy number variation1nstd229human GRCh38 chr2: 99,175,065-99,198,510 , GRCh37.p13 chr2: 99,791,528-99,814,973 MRPL30, MITD1
    nsv6636315copy number variation1nstd102humanLikely pathogenic GRCh37 chr2: 95,341,388-100,340,514 , GRCh38.p12 chr2: 94,675,663-99,724,052 ADRA2B, ATP5F1BP1, 130 more genes
    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
    nsv6350797copy number variation1nstd223human GRCh38 chr2: 99,175,065-99,198,504 , GRCh37.p13 chr2: 99,791,528-99,814,967 MITD1, MRPL30
    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
    nsv6313594copy number variation1nstd102humanUncertain significance GRCh37 chr2: 99,725,222-99,846,305 , GRCh38.p12 chr2: 99,108,759-99,229,842 LIPT1, MITD1, 3 more genes
    nsv6311944copy number variation1nstd102humanUncertain significance GRCh37 chr2: 99,778,421-99,779,542 , GRCh38.p12 chr2: 99,161,958-99,163,079 LIPT1, MITD1
    nsv6311147copy number variation1nstd102humanUncertain significance GRCh37 chr2: 99,779,169-99,779,218 , GRCh38 chr2: 99,162,706-99,162,755 LIPT1, MITD1
    nsv6296615copy number variation1nstd186human GRCh37 chr2: 99,738,242-99,799,220 , GRCh38.p12 chr2: 99,121,779-99,182,757 MRPL30, LIPT1, 3 more genes
    nsv6134377copy number variation1nstd213human GRCh37 chr2: 99,750,000-100,700,001 , GRCh38.p12 chr2: 99,133,537-100,083,539 AFF3, EIF5B, 11 more genes
    nsv5990910copy number variation1nstd212human GRCh38 chr2: 99,161,255-99,161,309 , GRCh37.p13 chr2: 99,777,718-99,777,772 MITD1, LIPT1
    nsv5688935mobile element insertion1nstd211human GRCh38 chr2: 99,161,338-99,161,338 , GRCh37.p13 chr2: 99,777,801-99,777,801 MITD1, LIPT1
    nsv5554214mobile element insertion1nstd206human GRCh38 chr2: 43,826,578-177,947,868 , GRCh37.p13 chr2: 44,053,717-178,812,595 , POLR1B, 2149 more genes
    nsv5451223copy number variation1nstd206human GRCh38 chr2: 99,175,065-99,198,504 , GRCh37.p13 chr2: 99,791,528-99,814,967 MRPL30, MITD1
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