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Items: 1 to 20 of 270

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv6130884insertion1nstd186human GRCh37 chr21: 10,697,897-44,966,043 , GRCh38.p12 chr21: 12,965,809-43,546,162 , APP, 533 more genes
    nsv5965857copy number variation1nstd209human GRCh38 chr21: 14,377,888-22,678,896 , GRCh37.p13 chr21: 15,750,209-24,051,216 , LOC107985508, 80 more genes
    nsv5539790insertion1nstd206human GRCh38 chr21: 5,227,438-39,583,816 , GRCh37.p13 chr21: 10,697,897-44,966,043 , LOC100419041, 557 more genes
    nsv5322846copy number variation1nstd204human GRCh38.p13 chr21: 17,444,182-17,445,064 , GRCh37.p13 chr21: 18,816,500-18,817,382 LINC01549
    nsv5025894copy number variation1nstd200human GRCh38 chr21: 17,231,032-17,884,426 , GRCh37.p13 chr21: 18,603,350-19,256,743 , BTF3L4P1, 13 more genes
    nsv5022882copy number variation1nstd200human GRCh38 chr21: 17,444,190-17,445,060 , GRCh37.p13 chr21: 18,816,508-18,817,378 LINC01549
    nsv5022881copy number variation1nstd200human GRCh38 chr21: 17,434,669-17,440,088 , GRCh37.p13 chr21: 18,806,987-18,812,406 LINC01549
    nsv4865747copy number variation1nstd200human GRCh37 chr21: 18,603,350-19,256,743 , GRCh38.p12 chr21: 17,231,032-17,884,426 , CHODL-AS1, 13 more genes
    nsv4862635copy number variation1nstd200human GRCh37 chr21: 18,816,508-18,817,378 , GRCh38.p12 chr21: 17,444,190-17,445,060 LINC01549
    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
    nsv4729815copy number variation1nstd102humanLikely benign GRCh37 chr21: 18,132,804-18,945,757 , GRCh38.p12 chr21: 16,760,485-17,573,439 LINC01549, RNU6-113P, 8 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
    nsv4676404copy number variation1nstd102humanUncertain significance GRCh37 chr21: 18,769,495-19,611,264 , GRCh38.p12 chr21: 17,397,176-18,238,947 C21orf91, CHODL, 12 more genes
    nsv4676338copy number variation1nstd102humanUncertain significance GRCh37 chr21: 17,724,268-22,219,850 , GRCh38.p12 chr21: 16,351,947-20,847,532 PPIAP22, MIR99AHG, 41 more genes
    nsv4676306copy number variation1nstd102humanPathogenic GRCh37 chr21: 15,006,457-29,325,923 , GRCh38.p12 chr21: 13,634,136-27,953,605 JAM2, LINC01549, 161 more genes
    nsv4676170copy number variation1nstd102humanPathogenic GRCh37 chr21: 15,006,457-24,522,577 , GRCh38.p12 chr21: 13,634,136-23,150,255 FDPSP6, RNU4-45P, 108 more genes
    nsv4634239copy number variation1nstd183human GRCh37 chr21: 18,802,524-19,044,235 , GRCh38.p12 chr21: 17,430,206-17,671,917 CXADR, BTG3, 7 more genes
    nsv4621914copy number variation1nstd183human GRCh37 chr21: 18,801,390-19,040,317 , GRCh38.p12 chr21: 17,429,071-17,667,999 CXADR, BTG3, 7 more genes
    nsv4435900copy number variation1nstd102humanLikely pathogenic GRCh37 chr21: 14,374,186-29,305,180 , GRCh38.p12 chr21: 13,001,865-27,932,861 APP, ATP5PF, 175 more genes
    nsv4428590copy number variation1nstd174human GRCh37 chr21: 18,737,223-19,136,235 , GRCh38.p12 chr21: 17,364,904-17,763,918 , CXADR, 8 more genes
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