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Items: 1 to 20 of 268

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5550080copy number variation1nstd206human GRCh38 chr21: 44,499,032-44,516,471 , GRCh37.p13 chr21|NW_004775435.1: 2,355-19,794 , GRCh37.p13 chr21: 45,918,915-45,936,354 TSPEAR, TSPEAR-AS1, 1 more genes
    nsv5541175copy number variation1nstd206human GRCh38 chr21: 44,515,309-44,515,386 , GRCh37.p13 chr21|NW_004775435.1: 18,632-18,709 , GRCh37.p13 chr21: 45,935,192-45,935,269 TSPEAR-AS1, TSPEAR, 1 more genes
    nsv5039000copy number variation1nstd200human GRCh38 chr21: 44,497,091-44,687,158 , GRCh37.p13 chr21|NW_004775435.1: 414-190,479 , GRCh37.p13 chr21: 45,916,974-46,107,073 KRTAP12-1, KRTAP10-2, 18 more genes
    nsv5038397copy number variation1nstd200human GRCh38 chr21: 44,332,469-44,603,779 , GRCh37.p13 chr21: 45,752,352-45,916,560 TSPEAR-AS2, CFAP410, 17 more genes
    nsv5033418copy number variation1nstd200human GRCh38 chr21: 44,513,292-44,516,172 , GRCh37.p13 chr21: 45,933,175-45,936,055 , GRCh37.p13 chr21|NW_004775435.1: 16,615-19,495 TSPEAR-AS2, TSPEAR-AS1, 1 more genes
    nsv5032657copy number variation1nstd200human GRCh38 chr21: 44,515,309-44,515,386 , GRCh37.p13 chr21: 45,935,192-45,935,269 , GRCh37.p13 chr21|NW_004775435.1: 18,632-18,709 TSPEAR, TSPEAR-AS1, 1 more genes
    nsv4863451copy number variation1nstd200human GRCh37 chr21: 45,935,192-45,935,269 , GRCh38.p12 chr21: 44,515,309-44,515,386 TSPEAR, TSPEAR-AS1, 1 more genes
    nsv4730021copy number variation1nstd102humanPathogenic GRCh37 chr21: 14,629,063-48,090,317 , GRCh38.p12 chr21: 13,256,742-46,670,405 SLX9, LOC105372750, 619 more genes
    nsv4683666copy number variation1nstd102humanUncertain significance GRCh37 chr21: 45,725,202-46,131,429 , GRCh38.p12 chr21: 44,305,319-44,711,514 KRTAP10-8, KRTAP12-4, 30 more genes
    nsv4682565copy number variation1nstd102humanUncertain significance GRCh37 chr21: 45,725,202-46,234,019 , GRCh38.p12 chr21: 44,305,319-44,814,104 KRTAP10-2, TRPM2-AS, 33 more genes
    nsv4681891copy number variation1nstd102humanUncertain significance GRCh37 chr21: 43,792,871-46,330,697 , GRCh38.p12 chr21: 42,372,762-44,910,782 DNMT3L-AS1, WDR4, 100 more genes
    nsv4679058copy number variation1nstd189human GRCh37.p13 chr21: 14,468,835-48,129,895 , GRCh38.p12 chr21: 13,096,514-46,699,983 , ADARB1, 652 more genes
    nsv4676376copy number variation1nstd102humanPathogenic GRCh37 chr21: 43,472,147-48,097,372 , GRCh38.p12 chr21: 42,052,038-46,677,460 LOC101928369, MTND6P21, 157 more genes
    nsv4676321copy number variation1nstd102humanPathogenic GRCh37 chr21: 42,044,877-48,100,155 , GRCh38.p12 chr21: 40,672,951-46,680,243 SLC19A1, LINC03039, 183 more genes
    nsv4676273copy number variation1nstd102humanUncertain significance GRCh37 chr21: 45,866,973-48,097,372 , GRCh38.p12 chr21: 44,447,090-46,677,460 COL18A1-AS2, RPL18AP2, 79 more genes
    nsv4676266copy number variation1nstd102humanUncertain significance GRCh37 chr21: 45,125,672-48,097,372 , GRCh38.p12 chr21: 43,705,791-46,677,460 LOC105372826, ADARB1, 107 more genes
    nsv4676152copy number variation1nstd102humanLikely pathogenic GRCh37 chr21: 45,490,774-48,097,372 , GRCh38.p12 chr21: 44,070,893-46,677,460 ADARB1, AIRE, 93 more genes
    nsv4631859copy number variation1nstd183human GRCh37 chr21: 45,898,223-46,066,140 , GRCh38.p12 chr21: 44,478,340-44,646,223 TSPEAR-AS2, KRTAP10-10, 13 more genes
    nsv4457830copy number variation1nstd102humanPathogenic GRCh37 chr21: 43,756,585-46,240,105 , GRCh38.p12 chr21: 42,336,476-44,820,190 RSPH1-DT, PKNOX1, 100 more genes
    nsv4457803copy number variation1nstd102humanPathogenic GRCh37 chr21: 44,310,057-47,503,155 , GRCh38.p12 chr21: 42,889,947-46,083,241 SLX9, PICSAR, 114 more genes
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