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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
    nsv7073094inversion1nstd229human GRCh38 chr22: 22,618,607-30,089,219 , GRCh37.p13 chr22: 22,961,077-30,485,208 BCRP1, POM121L10P, 237 more genes
    nsv7068065inversion1nstd229human GRCh38 chr22: 27,585,838-32,538,391 , GRCh37.p13 chr22: 27,981,799-32,934,377 LOC105372995, NEFH, 147 more genes
    nsv7065500inversion1nstd229human GRCh38 chr22: 29,260,563-37,652,385 , GRCh37.p13 chr22: 29,656,552-38,048,392 RFPL1, PATZ1, 217 more genes
    nsv7021806copy number variation1nstd229human GRCh38 chr22: 29,436,318-29,439,404 , GRCh37.p13 chr22: 29,832,307-29,835,393 RFPL1, RFPL1S
    nsv6637977copy number variation1nstd102humanPathogenic GRCh37 chr22: 26,614,429-29,847,680 , GRCh38.p12 chr22: 26,218,463-29,451,691 MIAT, LOC105372985, 65 more genes
    nsv6545461copy number variation1nstd223human GRCh38 chr22: 29,437,876-29,439,118 , GRCh37.p13 chr22: 29,833,865-29,835,107 RFPL1, RFPL1S
    nsv6544250copy number variation1nstd223human GRCh38 chr22: 29,436,339-29,439,382 , GRCh37.p13 chr22: 29,832,328-29,835,371 RFPL1S, RFPL1
    nsv6311263copy number variation1nstd102humanUncertain significance GRCh37 chr22: 29,083,885-34,046,674 , GRCh38.p12 chr22: 28,687,897-33,650,688 SNORD125, LOC107985533, 145 more genes
    nsv6209695copy number variation1nstd214human GRCh38 chr22: 29,436,055-29,436,146 , GRCh37.p13 chr22: 29,832,044-29,832,135 RFPL1S, RFPL1
    nsv6134119copy number variation1nstd213human GRCh37 chr22: 29,540,000-30,070,001 , GRCh38.p12 chr22: 29,144,012-29,674,012 AP1B1, EWSR1, 19 more genes
    nsv6134118copy number variation1nstd213human GRCh37 chr22: 27,870,000-35,640,001 , GRCh38.p12 chr22: 27,474,039-35,244,008 AP1B1, EWSR1, 172 more genes
    nsv5949911copy number variation1nstd209human GRCh38 chr22: 29,436,055-29,436,146 , GRCh37.p13 chr22: 29,832,044-29,832,135 RFPL1, RFPL1S
    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
    nsv5170351mobile element insertion1nstd203human GRCh38 chr22: 29,437,211-29,437,223 , GRCh37.p13 chr22: 29,833,200-29,833,212 RFPL1S, RFPL1
    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
    nsv4536922copy number variation1nstd166human GRCh37.p13 chr22: 29,831,009-29,831,693 , GRCh38.p12 chr22: 29,435,020-29,435,704 RFPL1S, RFPL4AP6, 1 more genes
    nsv4504980mobile element insertion1nstd166human GRCh37.p13 chr22: 29,833,200-29,833,200 , GRCh38.p12 chr22: 29,437,211-29,437,211 RFPL1, RFPL1S
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