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Items: 1 to 20 of 249

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5540341copy number variation1nstd206human GRCh38 chr22: 45,247,581-45,517,164 , GRCh37.p13 chr22: 45,643,462-45,913,044 FBLN1, UPK3A, 6 more genes
    nsv5536891copy number variation1nstd206human GRCh38 chr22: 45,284,632-45,290,710 , GRCh37.p13 chr22: 45,680,513-45,686,591 UPK3A
    nsv5381149copy number variation1nstd102humanPathogenic GRCh37 chr22: 42,333,802-51,195,728 , GRCh38.p12 chr22: 41,937,798-50,757,300 WBP2NL, RN7SKP80, 210 more genes
    nsv5334365translocation1nstd200human GRCh37 chr22: 45,690,259-45,690,259 , GRCh37 chr22: 45,690,129-45,690,129 , GRCh38.p12 chr22: 45,294,378-45,294,378 , GRCh38.p12 chr22: 45,294,248-45,294,248 UPK3A
    nsv5296995copy number variation1nstd204human GRCh38.p13 chr22: 45,285,803-45,289,502 , GRCh37.p13 chr22: 45,681,684-45,685,383 UPK3A
    nsv5037584copy number variation1nstd200human GRCh38 chr22: 45,267,883-45,296,664 , GRCh37.p13 chr22: 45,663,764-45,692,545 RPS10P31, UPK3A
    nsv5035622copy number variation1nstd200human GRCh38 chr22: 45,205,645-45,334,542 , GRCh37.p13 chr22: 45,601,526-45,730,423 UPK3A, KIAA0930, 2 more genes
    nsv5035400copy number variation1nstd200human GRCh38 chr22: 44,436,410-45,546,334 , GRCh37.p13 chr22: 44,832,290-45,942,214 , RIBC2, 29 more genes
    nsv5030565copy number variation1nstd200human GRCh38 chr22: 45,293,379-45,330,930 , GRCh37.p13 chr22: 45,689,260-45,726,811 UPK3A, FAM118A
    nsv4887587copy number variation1nstd200human GRCh37 chr22: 45,601,527-45,730,423 , GRCh38.p12 chr22: 45,205,646-45,334,542 UPK3A, FAM118A, 2 more genes
    nsv4880432copy number variation1nstd200human GRCh37 chr22: 45,676,655-45,684,433 , GRCh38.p12 chr22: 45,280,774-45,288,552 UPK3A
    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
    nsv4729777copy number variation1nstd102humanUncertain significance GRCh37 chr22: 44,649,786-45,866,882 , GRCh38.p12 chr22: 44,253,906-45,471,001 RIBC2, PHF21B, 27 more genes
    nsv4685945copy number variation1nstd102humanPathogenic GRCh38 chr22: 43,032,129-50,739,836 , GRCh37.p13 chr22: 43,428,135-51,178,264 LOC101927474, SHISAL1, 165 more genes
    nsv4685937copy number variation1nstd102humanPathogenic GRCh38 chr22: 43,802,117-50,806,121 , GRCh37.p13 chr22: 44,197,997-51,203,353 CIMAP1B, PNPLA3, 151 more genes
    nsv4685915copy number variation1nstd102humanPathogenic GRCh38 chr22: 44,702,479-50,806,138 , GRCh37.p13 chr22: 45,098,359-51,203,353 LOC105373066, LOC339685, 130 more genes
    nsv4685901copy number variation1nstd102humanPathogenic GRCh38 chr22: 44,245,760-50,806,121 , GRCh37.p13 chr22: 44,641,640-51,203,353 CHKB, TYMP, 141 more genes
    nsv4685771copy number variation1nstd102humanPathogenic GRCh37 chr22: 44,850,001-50,850,001 , GRCh38.p12 chr22: 44,454,121-50,411,572 LOC284933, EPIC1, 112 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
    nsv4676232copy number variation1nstd102humanPathogenic GRCh37 chr22: 40,502,364-51,197,838 , GRCh38.p12 chr22: 40,106,360-50,759,410 MIR378I, SNORD13P1, 274 more genes
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