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Items: 1 to 20 of 115

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7096892copy number variation1nstd102humanUncertain significance GRCh37 chr2: 54,278,075-55,549,848 , GRCh38.p12 chr2: 54,050,938-55,322,712 LOC102724072, C2orf73, 22 more genes
    nsv7050707inversion1nstd229human GRCh38 chr2: 49,559,122-58,358,849 , GRCh37.p13 chr2: 49,786,260-58,585,984 CDPF1P1, MIR3682, 86 more genes
    nsv7044195inversion1nstd229human GRCh38 chr2: 54,525,623-54,532,368 , GRCh37.p13 chr2: 54,752,760-54,759,505 SPTBN1-AS1, SPTBN1, 1 more genes
    nsv6677410copy number variation1nstd229human GRCh38 chr2: 54,527,405-54,527,586 , GRCh37.p13 chr2: 54,754,542-54,754,723 SPTBN1-AS1, RPL23AP32, 1 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
    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
    nsv6290537copy number variation1nstd102humanUncertain significance GRCh37 chr2: 54,718,060-55,215,908 , GRCh38.p12 chr2: 54,490,923-54,988,772 SPTBN1-AS1, RNU7-81P, 6 more genes
    nsv6134545copy number variation2nstd213human GRCh37 chr2: 47,990,000-75,070,001 , GRCh38.p12 chr2: 47,762,861-74,842,874 ACTG2, ACYP2, 438 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
    nsv5968604inversion1nstd209human GRCh38 chr2: 49,436,021-59,087,697 , GRCh37.p13 chr2: 49,663,159-59,314,832 , ACYP2, 95 more genes
    nsv5554214mobile element insertion1nstd206human GRCh38 chr2: 43,826,578-177,947,868 , GRCh37.p13 chr2: 44,053,717-178,812,595 , POLR1B, 2149 more genes
    nsv5030738inversion1nstd200human GRCh38 chr2: 53,702,002-58,642,705 , GRCh37.p13 chr2: 53,929,139-58,869,840 , LINC01122, 71 more genes
    nsv5030307inversion1nstd200human GRCh38 chr2: 48,550,793-61,622,055 , GRCh37.p13 chr2: 48,777,932-61,849,190 , MIR217, 146 more genes
    nsv4674217copy number variation1nstd102humanLikely benign GRCh37 chr2: 54,063,171-54,808,845 , GRCh38.p12 chr2: 53,836,034-54,581,708 GPR75-ASB3, RPL21P30, 15 more genes
    nsv4454627copy number variation1nstd102humanUncertain significance GRCh37 chr2: 54,677,116-54,833,461 , GRCh38.p12 chr2: 54,449,979-54,606,324 SPTBN1-AS1, RPL23AP32, 1 more genes
    nsv3916821copy number variation1nstd102humanPathogenic NCBI36 chr2: 47,701,031-86,783,356 , GRCh37.p13 chr2: 47,847,527-86,929,845 , GRCh38.p12 chr2: 47,620,388-86,702,722 NAGK, NRXN1-DT, 595 more genes
    nsv3910630copy number variation1nstd102humanPathogenic NCBI36 chr2: 50,739,936-242,751,149 , GRCh37.p13 chr2: 50,886,432-243,102,476 , GRCh38.p12 chr2: 50,659,294-242,160,331 DAZAP2P1, RPL36AP16, 2991 more genes
    nsv3908605copy number variation1nstd102humanPathogenic GRCh37 chr2: 66,097-55,797,773 , GRCh38 chr2: 66,097-55,570,637 , NCBI36 chr2: 56,097-55,651,277 SLC35F6, LOC105374458, 801 more genes
    nsv3905626copy number variation1nstd102humanPathogenic GRCh37 chr2: 40,965,422-58,090,956 , GRCh38 chr2: 40,738,282-57,863,821 , NCBI36 chr2: 40,818,926-57,944,460 RNU6-433P, RNU6-997P, 220 more genes
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