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Items: 1 to 20 of 137

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5953522copy number variation1nstd209human GRCh38 chr22: 38,666,192-38,666,261 , GRCh37.p13 chr22: 39,062,197-39,062,266 CBY1
    nsv5590046copy number variation1nstd207human GRCh38 chr22: 38,666,192-38,666,261 , GRCh37.p13 chr22: 39,062,197-39,062,266 CBY1
    nsv5541564copy number variation1nstd206human GRCh38 chr22: 38,666,193-38,666,262 , GRCh37.p13 chr22: 39,062,198-39,062,267 CBY1
    nsv5537559copy number variation1nstd206human GRCh38 chr22: 38,648,418-38,655,379 , GRCh37.p13 chr22: 39,044,423-39,051,384 FAM227A, CBY1
    nsv5535173copy number variation1nstd206human GRCh38 chr22: 38,663,420-38,663,746 , GRCh37.p13 chr22: 39,059,425-39,059,751 CBY1
    nsv5034516copy number variation1nstd200human GRCh38 chr22: 38,651,885-38,663,434 , GRCh37.p13 chr22: 39,047,890-39,059,439 FAM227A, CBY1
    nsv4874725copy number variation1nstd200human GRCh37 chr22: 39,047,955-39,059,439 , GRCh38.p12 chr22: 38,651,950-38,663,434 CBY1, FAM227A
    nsv4734897copy number variation1nstd199human GRCh37 chr22: 39,062,200-39,062,269 , GRCh38.p12 chr22: 38,666,195-38,666,264 CBY1
    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
    nsv4676191copy number variation1nstd102humanLikely pathogenic GRCh37 chr22: 38,431,917-39,392,250 , GRCh38.p12 chr22: 38,035,910-38,996,245 CSNK1E, KCNJ4, 35 more genes
    nsv4638247copy number variation2nstd186human GRCh37 chr22: 39,062,198-39,062,267 , GRCh38.p12 chr22: 38,666,193-38,666,262 CBY1
    nsv4513900mobile element insertion1nstd166human GRCh37.p13 chr22: 39,051,663-39,051,663 , GRCh38.p12 chr22: 38,655,658-38,655,658 CBY1, FAM227A
    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
    nsv4436801copy number variation1nstd102humanUncertain significance GRCh37 chr22: 38,838,246-39,260,032 , GRCh38.p12 chr22: 38,442,241-38,864,027 FAM227A, CBY1, 14 more genes
    nsv4392821copy number variation1nstd171human GRCh37 chr22: 39,062,198-39,062,267 , GRCh38.p12 chr22: 38,666,193-38,666,262 CBY1
    nsv4383315copy number variation1nstd173human GRCh37 chr22: 39,054,090-39,164,951 , GRCh38.p12 chr22: 38,658,085-38,768,946 GTPBP1, JOSD1, 4 more genes
    nsv4291444copy number variation1nstd166human GRCh37.p13 chr22: 39,062,198-39,062,267 , GRCh38.p12 chr22: 38,666,193-38,666,262 CBY1
    nsv4285855copy number variation1nstd166human GRCh37.p13 chr22: 39,051,372-39,066,018 , GRCh38.p12 chr22: 38,655,367-38,670,013 CBY1, FAM227A
    nsv4273276copy number variation1nstd166human GRCh37.p13 chr22: 39,044,408-39,051,370 , GRCh38.p12 chr22: 38,648,403-38,655,365 FAM227A, CBY1
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