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Items: 1 to 20 of 280

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5978189inversion1nstd209human GRCh38 chr21: 44,550,659-44,628,117 , GRCh37.p13 chr21: 45,970,542-46,048,034 , GRCh37.p13 chr21|NW_004775435.1: 53,982-131,440 TSPEAR, KRTAP10-4, 7 more genes
    nsv5953827copy number variation1nstd209human GRCh38 chr21: 44,558,614-44,592,337 , GRCh37.p13 chr21|NW_004775435.1: 61,937-95,660 , GRCh37.p13 chr21: 45,978,497-46,012,218 TSPEAR, KRTAP10-4, 3 more genes
    nsv5559623inversion1nstd206human GRCh38 chr21: 44,549,786-44,628,795 , GRCh37.p13 chr21: 45,969,669-46,048,712 , GRCh37.p13 chr21|NW_004775435.1: 53,109-132,118 TSPEAR, KRTAP10-4, 7 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
    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
    nsv4625920copy number variation1nstd183human GRCh37 chr21: 45,960,954-46,015,300 , GRCh38.p12 chr21: 44,541,071-44,595,409 TSPEAR, KRTAP10-4, 4 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
    nsv4457754copy number variation1nstd102humanUncertain significance GRCh37 chr21: 45,966,645-46,077,563 , GRCh38.p12 chr21: 44,546,762-44,657,646 TSPEAR, KRTAP12-4, 11 more genes
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