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Items: 1 to 20 of 144

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5673427copy number variation1nstd102humanPathogenic GRCh37 chr22: 29,083,885-30,337,586 , GRCh38.p12 chr22: 28,687,897-29,941,597 SNORD125, RASL10A, 36 more genes
    nsv5673351copy number variation1nstd102humanPathogenic GRCh37 chr22: 29,105,984-30,337,586 , GRCh38.p12 chr22: 28,709,996-29,941,597 SNORD125, RASL10A, 36 more genes
    nsv5321178copy number variation1nstd204human GRCh38.p13 chr22: 29,677,880-29,826,306 , GRCh37.p13 chr22: 30,073,869-30,222,295 ASCC2, NF2, 3 more genes
    nsv5296042copy number variation1nstd204human GRCh38.p13 chr22: 29,723,589-29,725,712 , GRCh37.p13 chr22: 30,119,578-30,121,701 CABP7
    nsv5293498copy number variation1nstd204human GRCh38.p13 chr22: 29,721,850-29,723,088 , GRCh37.p13 chr22: 30,117,839-30,119,077 CABP7
    nsv5288578copy number variation1nstd204human GRCh38.p13 chr22: 29,677,801-29,826,300 , GRCh37.p13 chr22: 30,073,790-30,222,289 ASCC2, CABP7, 3 more genes
    nsv5283457copy number variation1nstd204human GRCh38.p13 chr22: 29,676,663-29,724,588 , GRCh37.p13 chr22: 30,072,652-30,120,577 NF2, CABP7
    nsv5039055copy number variation1nstd200human GRCh38 chr22: 29,445,909-29,773,501 , GRCh37.p13 chr22: 29,841,898-30,169,490 NF2, ZMAT5, 7 more genes
    nsv5035742copy number variation1nstd200human GRCh38 chr22: 29,677,886-29,826,301 , GRCh37.p13 chr22: 30,073,875-30,222,290 ZMAT5, ASCC2, 3 more genes
    nsv4869401copy number variation1nstd200human GRCh37 chr22: 30,073,875-30,222,290 , GRCh38.p12 chr22: 29,677,886-29,826,301 UQCR10, ZMAT5, 3 more genes
    nsv4729926copy number variation1nstd102humanPathogenic GRCh37 chr22: 16,197,005-51,224,252 , GRCh38.p12 chr22: 16,367,190-50,785,824 FBXO7, GTSE1, 1084 more genes
    nsv4729897copy number variation1nstd102humanPathogenic GRCh37 chr22: 28,291,202-30,450,920 , GRCh38.p12 chr22: 27,895,214-30,054,931 RNU6-810P, THOC5, 48 more genes
    nsv4503911mobile element insertion1nstd166human GRCh37.p13 chr22: 30,119,294-30,119,294 , GRCh38.p12 chr22: 29,723,305-29,723,305 CABP7
    nsv4457771copy number variation1nstd102humanPathogenic GRCh37 chr22: 16,888,899-51,197,838 , GRCh38.p12 chr22: 16,408,173-50,759,410 IGLV3-27, XKR3, 1082 more genes
    nsv4436827inversion1nstd102humanLikely pathogenic GRCh38.p12 chr22: 29,288,727-31,344,669 , GRCh37 chr22: 29,684,716-31,740,655 AP1B1, EWSR1, 81 more genes
    nsv4383389copy number variation1nstd173human GRCh37 chr22: 21,465,662-33,984,045 , GRCh38.p12 chr22: 21,111,373-33,588,059 , XBP1, 450 more genes
    nsv4316382inversion1nstd166human GRCh37.p13 chr22: 22,466,414-30,881,792 , GRCh38.p12 chr22: 22,112,004-30,485,805 , CRYBB2, 313 more genes
    nsv4282242copy number variation1nstd166human GRCh37.p13 chr22: 30,023,679-30,171,833 , GRCh38.p12 chr22: 29,627,690-29,775,844 UQCR10, CABP7, 2 more genes
    nsv3923205copy number variation1nstd102humanPathogenic NCBI36 chr22: 25,177,008-30,177,912 , GRCh37 chr22: 26,847,008-31,847,912 , GRCh38 chr22: 26,451,042-31,451,926 DRG1, THOC5, 138 more genes
    nsv3922708copy number variation1nstd102humanPathogenic GRCh38 chr22: 23,279,231-36,247,369 , GRCh37 chr22: 23,621,418-36,643,415 , NCBI36 chr22: 21,951,418-34,973,361 DRICH1, MMP11, 316 more genes
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