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Items: 1 to 20 of 116

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5961523copy number variation1nstd209human GRCh38 chr22: 29,306,833-29,306,943 , GRCh37.p13 chr22: 29,702,823-29,702,933 GAS2L1
    nsv5958154copy number variation1nstd209human GRCh38 chr22: 29,311,120-29,311,175 , GRCh37.p13 chr22: 29,707,110-29,707,165 RASL10A, GAS2L1
    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
    nsv5538655copy number variation1nstd206human GRCh38 chr22: 29,304,035-29,305,028 , GRCh37.p13 chr22: 29,700,025-29,701,018 GAS2L1
    nsv5360485translocation1nstd200human GRCh38 chr22: 29,306,944-29,306,944 , GRCh38 chr22: 29,306,833-29,306,833 , GRCh37.p13 chr22: 29,702,934-29,702,934 , GRCh37.p13 chr22: 29,702,823-29,702,823 GAS2L1
    nsv5033477copy number variation1nstd200human GRCh38 chr22: 29,312,651-29,314,706 , GRCh37.p13 chr22: 29,708,640-29,710,695 RASL10A, GAS2L1
    nsv4869399copy number variation1nstd200human GRCh37 chr22: 29,708,640-29,710,695 , GRCh38.p12 chr22: 29,312,651-29,314,706 RASL10A, GAS2L1
    nsv4854220copy number variation1nstd200human GRCh37 chr22: 29,700,063-29,700,941 , GRCh38.p12 chr22: 29,304,073-29,304,951 GAS2L1
    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
    nsv4683866copy number variation1nstd102humanPathogenic GRCh37 chr22: 29,083,875-30,090,801 , GRCh38.p12 chr22: 28,687,887-29,694,812 RNU6-1219P, EMID1, 29 more genes
    nsv4631756copy number variation1nstd183human GRCh37 chr22: 29,702,337-29,703,989 , GRCh38.p12 chr22: 29,306,347-29,307,999 GAS2L1
    nsv4536171copy number variation1nstd166human GRCh37.p13 chr22: 29,700,072-29,700,970 , GRCh38.p12 chr22: 29,304,082-29,304,980 GAS2L1
    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
    nsv4287714copy number variation1nstd166human GRCh37.p13 chr22: 29,700,905-29,700,978 , GRCh38.p12 chr22: 29,304,915-29,304,988 GAS2L1
    nsv4276313copy number variation1nstd166human GRCh37.p13 chr22: 29,700,620-29,700,705 , GRCh38.p12 chr22: 29,304,630-29,304,715 GAS2L1
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