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Items: 1 to 20 of 186

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5964831copy number variation1nstd209human GRCh38 chr22: 43,515,103-43,515,219 , GRCh37.p13 chr22: 43,910,983-43,911,099 EFCAB6-AS1
    nsv5953136copy number variation1nstd209human GRCh38 chr22: 43,526,809-43,526,860 , GRCh37.p13 chr22: 43,922,689-43,922,740 EFCAB6, EFCAB6-AS1
    nsv5705282mobile element insertion1nstd211human GRCh38 chr22: 43,522,721-43,522,721 , GRCh37.p13 chr22: 43,918,601-43,918,601 EFCAB6-AS1
    nsv5596145copy number variation1nstd207human GRCh38 chr22: 43,515,105-43,515,221 , GRCh37.p13 chr22: 43,910,985-43,911,101 EFCAB6-AS1
    nsv5547062copy number variation1nstd206human GRCh38 chr22: 43,515,103-43,515,222 , GRCh37.p13 chr22: 43,910,983-43,911,102 EFCAB6-AS1
    nsv5389718copy number variation3nstd186human GRCh37 chr22: 43,910,983-43,911,102 , GRCh38.p12 chr22: 43,515,103-43,515,222 EFCAB6-AS1
    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
    nsv5327693copy number variation1nstd204human GRCh38.p13 chr22: 43,515,103-43,515,222 , GRCh37.p13 chr22: 43,910,983-43,911,102 EFCAB6-AS1
    nsv5037597copy number variation1nstd200human GRCh38 chr22: 43,515,103-43,515,222 , GRCh37.p13 chr22: 43,910,983-43,911,102 EFCAB6-AS1
    nsv5037529copy number variation1nstd200human GRCh38 chr22: 43,463,348-44,099,246 , GRCh37.p13 chr22: 43,859,242-44,495,126 , PNPLA3, 15 more genes
    nsv5033341copy number variation1nstd200human GRCh38 chr22: 43,534,797-43,538,328 , GRCh37.p13 chr22: 43,930,677-43,934,208 EFCAB6-AS1, EFCAB6
    nsv5032425inversion1nstd200human GRCh38 chr22: 41,452,969-44,153,937 , GRCh37.p13 chr22: 41,848,973-44,549,817 , LOC101927393, 95 more genes
    nsv4877250copy number variation1nstd200human GRCh37 chr22: 43,910,983-43,911,102 , GRCh38.p12 chr22: 43,515,103-43,515,222 EFCAB6-AS1
    nsv4877046copy number variation1nstd200human GRCh37 chr22: 43,859,242-44,495,126 , GRCh38.p12 chr22: 43,463,348-44,099,246 , EFCAB6-DT, 15 more genes
    nsv4872472copy number variation1nstd200human GRCh37 chr22: 43,930,677-43,934,208 , GRCh38.p12 chr22: 43,534,797-43,538,328 EFCAB6-AS1, EFCAB6
    nsv4743315copy number variation1nstd199human GRCh37 chr22: 43,910,981-43,911,096 , GRCh38.p12 chr22: 43,515,101-43,515,216 EFCAB6-AS1
    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
    nsv4729857copy number variation1nstd102humanUncertain significance GRCh37 chr22: 43,471,921-44,241,041 , GRCh38.p12 chr22: 43,075,915-43,845,161 LOC100419506, EFCAB6, 18 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
    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
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