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Items: 1 to 20 of 125

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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
    nsv7075608inversion1nstd229human GRCh38 chr22: 30,571,710-30,574,815 , GRCh37.p13 chr22: 30,967,697-30,970,802 PES1, GAL3ST1
    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
    nsv7035800copy number variation1nstd229human GRCh38 chr22: 30,480,363-30,697,469 , GRCh37.p13 chr22: 30,876,350-31,093,456 SIRPAP1, DUSP18, 10 more genes
    nsv7034933copy number variation1nstd229human GRCh38 chr22: 30,565,547-30,565,803 , GRCh37.p13 chr22: 30,961,534-30,961,790 GAL3ST1
    nsv7032801copy number variation1nstd229human GRCh38 chr22: 30,557,901-30,568,900 , GRCh37.p13 chr22: 30,953,888-30,964,887 GAL3ST1
    nsv7032402copy number variation1nstd229human GRCh38 chr22: 30,567,035-30,567,575 , GRCh37.p13 chr22: 30,963,022-30,963,562 GAL3ST1
    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
    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
    nsv5320765translocation1nstd204human GRCh38.p13 chr22: 30,571,429-30,571,429 , GRCh38.p13 chr7: 65,257,369-65,257,369 , GRCh37.p13 chr7: 64,717,716-64,717,716 , GRCh37.p13 chr22: 30,967,416-30,967,416 GAL3ST1
    nsv5036197copy number variation1nstd200human GRCh38 chr22: 30,559,421-30,561,151 , GRCh37.p13 chr22: 30,955,408-30,957,138 GAL3ST1
    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
    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
    nsv3923324copy number variation1nstd102humanUncertain significance NCBI36 chr22: 29,038,245-29,676,302 , GRCh37 chr22: 30,708,245-31,346,302 , GRCh38 chr22: 30,312,256-30,950,316 SLC35E4, OSBP2, 28 more genes
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