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Items: 1 to 20 of 254

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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
    nsv5287156copy number variation1nstd204human GRCh38.p13 chr21: 43,034,901-43,571,900 , GRCh37.p13 chr21: 44,455,011-44,991,781 , HSF2BP, 18 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
    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
    nsv4676372copy number variation1nstd102humanPathogenic GRCh37 chr21: 39,410,438-45,171,756 , GRCh38.p12 chr21: 38,038,136-43,751,875 KCNJ15, SPATA20P1, 126 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
    nsv4676186copy number variation1nstd102humanUncertain significance GRCh37 chr21: 43,822,539-44,974,001 , GRCh38.p12 chr21: 42,402,430-43,554,120 UBASH3A, HSF2BP, 34 more genes
    nsv4626063copy number variation1nstd183human GRCh37 chr21: 44,526,668-44,769,811 , GRCh38.p12 chr21: 43,106,558-43,349,931 CRYAA, U2AF1, 6 more genes
    nsv4537380copy number variation1nstd166human GRCh37.p13 chr21: 44,542,199-44,632,664 , GRCh38.p12 chr21: 43,122,089-43,212,461 LOC101928369, LOC105372821, 3 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
    nsv4457558copy number variation1nstd102humanUncertain significance GRCh37 chr21: 44,577,746-45,120,173 , GRCh38.p12 chr21: 43,157,636-43,700,292 LINC01679, LOC107987300, 13 more genes
    nsv4385813copy number variation1nstd173human GRCh37 chr21: 15,006,458-48,097,384 , GRCh38.p12 chr21: 13,634,137-46,677,472 , GET1, 639 more genes
    nsv4382575copy number variation2nstd173human GRCh37 chr21: 15,006,458-48,097,372 , GRCh38.p12 chr21: 13,634,137-46,677,460 , CBR3-AS1, 639 more genes
    nsv4378831copy number variation1nstd173human GRCh37 chr21: 15,006,458-48,097,384 , GRCh38.p12 chr21: 13,634,137-46,677,472 , LOC105369299, 639 more genes
    nsv4369498copy number variation1nstd173human GRCh37 chr21: 15,547,727-45,685,800 , GRCh38.p12 chr21: 14,175,406-44,265,917 , LINC00114, 520 more genes
    nsv4368328copy number variation1nstd173human GRCh37 chr21: 15,006,458-48,097,382 , GRCh38.p12 chr21: 13,634,137-46,677,470 , DNMT3L, 639 more genes
    nsv4367905copy number variation1nstd173human GRCh37 chr21: 15,255,805-48,097,372 , GRCh38.p12 chr21: 13,883,484-46,677,460 , LINC00205, 623 more genes
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