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Items: 1 to 20 of 362

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv6137682copy number variation1nstd102humanLikely pathogenic GRCh37 chr21: 35,821,815-35,821,902 , GRCh38 chr21: 34,449,517-34,449,604 KCNE1
    nsv6130884insertion1nstd186human GRCh37 chr21: 10,697,897-44,966,043 , GRCh38.p12 chr21: 12,965,809-43,546,162 , APP, 533 more genes
    nsv5547221copy number variation1nstd206human GRCh38 chr21: 34,510,506-34,511,798 , GRCh37.p13 chr21: 35,882,804-35,884,096 KCNE1
    nsv5539790insertion1nstd206human GRCh38 chr21: 5,227,438-39,583,816 , GRCh37.p13 chr21: 10,697,897-44,966,043 , LOC100419041, 557 more genes
    nsv5381310copy number variation1nstd102humanUncertain significance GRCh37 chr21: 32,439,271-37,133,458 , GRCh38.p12 chr21: 31,066,952-35,761,160 LINC00945, CFAP298-TCP10L, 83 more genes
    nsv5298893copy number variation1nstd204human GRCh38.p13 chr21: 34,451,401-34,453,800 , GRCh37.p13 chr21: 35,823,699-35,826,098 KCNE1
    nsv5029373copy number variation1nstd200human GRCh38 chr21: 34,350,120-34,534,296 , GRCh37.p13 chr21: 35,722,419-35,906,594 KCNE1, RCAN1, 6 more genes
    nsv5029372copy number variation1nstd200human GRCh38 chr21: 34,294,299-34,517,014 , GRCh37.p13 chr21: 35,666,599-35,889,312 RCAN1, KCNE2, 6 more genes
    nsv5028870copy number variation1nstd200human GRCh38 chr21: 34,510,506-34,511,798 , GRCh37.p13 chr21: 35,882,804-35,884,096 KCNE1
    nsv4887222mobile element deletion1nstd200human GRCh37 chr21: 35,849,289-35,851,272 , GRCh38.p12 chr21: 34,476,991-34,478,974 KCNE1
    nsv4865842copy number variation1nstd200human GRCh37 chr21: 35,847,411-35,859,765 , GRCh38.p12 chr21: 34,475,113-34,487,467 KCNE1
    nsv4865841copy number variation1nstd200human GRCh37 chr21: 35,722,419-35,906,594 , GRCh38.p12 chr21: 34,350,120-34,534,296 LOC105372793, KCNE1, 6 more genes
    nsv4865840copy number variation1nstd200human GRCh37 chr21: 35,666,599-35,889,312 , GRCh38.p12 chr21: 34,294,299-34,517,014 SMIM34, LOC105372793, 6 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
    nsv4684072copy number variation1nstd102humanPathogenic GRCh37 chr21: 33,205,064-36,039,022 , GRCh38.p12 chr21: 31,832,752-34,666,723 LOC101928107, CFAP298-TCP10L, 62 more genes
    nsv4683865copy number variation1nstd102humanLikely pathogenic GRCh37 chr21: 35,304,341-36,865,875 , GRCh38.p12 chr21: 33,932,037-35,493,577 RUNX1, RCAN1, 22 more genes
    nsv4682318copy number variation1nstd102humanLikely pathogenic GRCh37 chr21: 35,304,355-36,865,958 , GRCh38.p12 chr21: 33,932,051-35,493,660 RUNX1, RCAN1, 22 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
    nsv4622112copy number variation1nstd183human GRCh37 chr21: 35,722,995-35,905,994 , GRCh38.p12 chr21: 34,350,696-34,533,696 RCAN1, KCNE1, 6 more genes
    nsv4620504copy number variation1nstd183human GRCh37 chr21: 35,725,718-35,903,365 , GRCh38.p12 chr21: 34,353,419-34,531,067 RCAN1, KCNE1, 6 more genes
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