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Items: 1 to 20 of 122

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7078067inversion1nstd229human GRCh38 chr22: 30,287,061-38,012,264 , GRCh37.p13 chr22: 30,683,050-38,408,271 LINC02885, RN7SL20P, 203 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
    nsv7020792copy number variation1nstd229human GRCh38 chr22: 30,335,406-30,530,242 , GRCh37.p13 chr22: 30,731,395-30,926,229 SEC14L3, SEC14L2, 13 more genes
    nsv6638056copy number variation1nstd102humanUncertain significance GRCh37 chr22: 30,649,178-31,035,087 , GRCh38.p12 chr22: 30,253,189-30,639,100 GAL3ST1, SDC4P, 22 more genes
    nsv6538645copy number variation1nstd223human GRCh38 chr22: 30,376,001-30,378,100 , GRCh37.p13 chr22: 30,771,990-30,774,089 CCDC157, KIAA1656, 1 more genes
    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
    nsv6134210copy number variation1nstd213human GRCh37 chr22: 30,130,000-36,350,001 , GRCh38.p12 chr22: 29,734,011-35,953,953 HMOX1, LIF, 146 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
    nsv5533924copy number variation1nstd206human GRCh38 chr22: 30,376,112-30,376,168 , GRCh37.p13 chr22: 30,772,101-30,772,157 CCDC157, KIAA1656
    nsv5036168copy number variation1nstd200human GRCh38 chr22: 30,378,114-30,449,390 , GRCh37.p13 chr22: 30,774,103-30,845,377 , SEC14L3, 9 more genes
    nsv5034681copy number variation1nstd200human GRCh38 chr22: 30,375,623-30,381,594 , GRCh37.p13 chr22: 30,771,612-30,777,583 RNF215, KIAA1656, 1 more genes
    nsv4884718copy number variation1nstd200human GRCh37 chr22: 30,774,103-30,845,377 , GRCh38.p12 chr22: 30,378,114-30,449,390 , LOC105372991, 9 more genes
    nsv4876671copy number variation1nstd200human GRCh37 chr22: 30,771,612-30,777,583 , GRCh38.p12 chr22: 30,375,623-30,381,594 CCDC157, KIAA1656, 1 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
    nsv4676292copy number variation1nstd102humanPathogenic GRCh37 chr22: 30,654,764-51,197,838 , GRCh38.p12 chr22: 30,258,775-50,759,410 PDXP-DT, PDGFB, 550 more genes
    nsv4565638insertion1nstd166human GRCh37.p13 chr22: 30,772,070-30,772,070 , GRCh38.p12 chr22: 30,376,081-30,376,081 KIAA1656, CCDC157
    nsv4557707insertion1nstd166human GRCh37.p13 chr22: 30,772,101-30,772,101 , GRCh38.p12 chr22: 30,376,112-30,376,112 CCDC157, KIAA1656
    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
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