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Items: 1 to 20 of 118

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv6131228insertion1nstd186human GRCh37 chr22: 29,196,581-29,196,613 , GRCh38.p12 chr22: 28,800,593-28,800,625 XBP1, ZNRF3
    nsv5978667insertion1nstd209human GRCh38 chr22: 28,800,574-28,800,574 , GRCh37.p13 chr22: 29,196,562-29,196,562 XBP1, ZNRF3
    nsv5720875mobile element insertion1nstd211human GRCh38 chr22: 28,794,691-28,794,691 , GRCh37.p13 chr22: 29,190,679-29,190,679 XBP1
    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
    nsv5671515insertion1nstd207human GRCh38 chr22: 28,794,677-28,794,677 , GRCh37.p13 chr22: 29,190,665-29,190,665 XBP1
    nsv5545649insertion1nstd206human GRCh38 chr22: 28,800,593-28,800,625 , GRCh37.p13 chr22: 29,196,581-29,196,613 XBP1, ZNRF3
    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
    nsv4682263copy number variation1nstd102humanPathogenic GRCh37 chr22: 29,083,885-29,621,477 , GRCh38.p12 chr22: 28,687,897-29,225,488 XBP1, CCDC117, 13 more genes
    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
    nsv4457630copy number variation2nstd102humanUncertain significance GRCh37 chr22: 29,167,380-29,205,638 , GRCh38.p12 chr22: 28,771,392-28,809,650 ZNRF3, XBP1, 1 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
    nsv4382547copy number variation1nstd173human GRCh37 chr22: 29,167,331-29,420,651 , GRCh38.p12 chr22: 28,771,343-29,024,663 ZNRF3-AS1, LOC646408, 4 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
    nsv4291518copy number variation1nstd166human GRCh37.p13 chr22: 29,188,039-29,188,843 , GRCh38.p12 chr22: 28,792,051-28,792,855 XBP1
    nsv4284785copy number variation1nstd166human GRCh37.p13 chr22: 29,196,738-29,196,962 , GRCh38.p12 chr22: 28,800,750-28,800,974 ZNRF3, XBP1
    nsv4282291copy number variation1nstd166human GRCh37.p13 chr22: 29,194,330-29,194,381 , GRCh38.p12 chr22: 28,798,342-28,798,393 XBP1
    nsv3924941copy number variation1nstd102humanPathogenic GRCh38 chr22: 26,221,273-29,477,543 , GRCh37 chr22: 26,617,239-29,873,532 , NCBI36 chr22: 24,947,239-28,203,532 TFIP11, RASL10A, 66 more genes
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