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Items: 1 to 20 of 8719

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv6116807mobile element insertion1nstd186human GRCh37 chr4: 70,477,004-70,477,004 , GRCh38.p12 chr4: 69,611,286-69,611,286 UGT2A2, UGT2A1
    nsv6116500mobile element insertion1nstd186human GRCh37 chr16: 23,533,101-23,533,152 , GRCh38.p12 chr16: 23,521,780-23,521,831 EARS2
    nsv6112815copy number variation1nstd102humanPathogenic GRCh37 chr18: 54,285,235-77,960,815 , GRCh38.p12 chr18: 56,618,004-80,202,932 RPL31P9, TRG-TCC5-1, 271 more genes
    nsv6112802copy number variation1nstd102humanPathogenic GRCh37 chr18: 23,626,739-78,014,976 , GRCh38.p12 chr18: 26,046,775-80,257,093 RPL9P31, LINC02582, 595 more genes
    nsv6112797copy number variation1nstd102humanPathogenic GRCh37 chr16: 84,485-5,251,013 , GRCh38.p12 chr16: 34,485-5,201,012 ANTKMT, HBA1, 307 more genes
    nsv6112771copy number variation1nstd102humanPathogenic GRCh37 chr17: 14,098,196-15,442,500 , GRCh38.p12 chr17: 14,194,879-15,539,186 CDRT8, TVP23C, 24 more genes
    nsv6112765copy number variation1nstd102humanPathogenic GRCh37 chr10: 118,247,181-135,435,319 , GRCh38.p12 chr10: 116,487,669-133,621,815 STK32C, LOC105378542, 266 more genes
    nsv6112690copy number variation1nstd102humanPathogenic GRCh37 chrX: 60,000-155,234,966 , GRCh38.p12 chrX: 10,001-156,005,301 LOC105373176, ZFX-AS1, 2151 more genes
    nsv5980446copy number variation1nstd102humanPathogenic GRCh37 chr10: 122,785,023-135,457,222 , GRCh38.p12 chr10: 121,025,510-133,643,718 LINC02641, CFAP46, 194 more genes
    nsv5980432copy number variation2nstd102humanPathogenic, Likely benign GRCh37 chrX: 8,501,036-11,318,732 , GRCh38.p12 chrX: 8,532,995-11,300,612 FAM9A, NOLC1P1, 23 more genes
    nsv5977353inversion1nstd209human GRCh38 chr4: 69,270,795-69,320,130 , GRCh37.p13 chr4: 70,136,513-70,185,848 UGT2B28, LOC100422022
    nsv5973931inversion1nstd209human GRCh38 chr4: 68,852,162-69,022,295 , GRCh37.p13 chr4: 69,717,880-69,888,013 UGT2B27P, UGT2A3, 6 more genes
    nsv5972564copy number variation1nstd209human GRCh38 chrX: 66,245,833-66,251,504 , GRCh37.p13 chrX: 65,465,675-65,471,346 HEPH
    nsv5972079insertion1nstd209human GRCh38 chr18: 57,553,219-57,553,219 , GRCh37.p13 chr18: 55,220,451-55,220,451 FECH
    nsv5971732inversion1nstd209human GRCh38 chr4: 69,220,528-69,383,674 , GRCh37.p13 chr4: 70,086,246-70,249,392 UGT2B11, UGT2B28, 3 more genes
    nsv5969749inversion1nstd209human GRCh38 chr4: 69,198,309-69,519,167 , GRCh37.p13 chr4: 70,064,027-70,384,885 UGT2B4, UGT2B11, 11 more genes
    nsv5969561inversion1nstd209human GRCh38 chr16: 4,398,708-4,642,744 , GRCh37.p13 chr16: 4,448,709-4,692,745 HMOX2, DNAJA3, 9 more genes
    nsv5965591insertion1nstd209human GRCh38 chr1: 219,971,796-219,971,796 , GRCh37.p13 chr1: 220,145,138-220,145,138 EPRS1
    nsv5963925copy number variation1nstd209human GRCh38 chr22: 35,389,290-35,389,405 , GRCh37.p13 chr22: 35,785,283-35,785,398 HMOX1
    nsv5963876copy number variation1nstd209human GRCh38 chr22: 35,356,512-35,388,774 , GRCh37.p13 chr22: 35,752,505-35,784,767 HMOX1
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