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Items: 1 to 20 of 331

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7096096copy number variation2nstd102humanUncertain significance, Pathogenic GRCh37 chr21: 43,160,998-47,754,702 , GRCh38.p12 chr21: 41,740,838-46,334,788 TSPEAR, LINC01424, 158 more genes
    nsv7074188inversion1nstd229human GRCh38 chr21: 45,231,191-45,516,026 , GRCh37.p13 chr21: 46,651,106-46,935,940 COL18A1-AS1, SLC19A1, 10 more genes
    nsv7036886copy number variation1nstd229human GRCh38 chr21: 45,266,609-45,286,425 , GRCh37.p13 chr21: 46,686,524-46,706,340 LINC00205, POFUT2
    nsv7036223copy number variation1nstd229human GRCh38 chr21: 45,288,301-45,501,700 , GRCh37.p13 chr21: 46,708,216-46,921,614 POFUT2, LINC00316, 9 more genes
    nsv7033065copy number variation1nstd229human GRCh38 chr21: 45,251,001-45,646,100 , GRCh37.p13 chr21: 46,670,916-47,066,014 MTCO1P3, LINC00316, 13 more genes
    nsv7029672copy number variation1nstd229human GRCh38 chr21: 45,279,197-45,288,749 , GRCh37.p13 chr21: 46,699,112-46,708,664 LINC00205, POFUT2
    nsv7022896copy number variation1nstd229human GRCh38 chr21: 45,131,565-45,525,781 , GRCh37.p13 chr21: 46,551,480-46,945,695 COL18A1-AS1, SLC19A1, 11 more genes
    nsv7019735copy number variation1nstd229human GRCh38 chr21: 45,294,601-45,301,300 , GRCh37.p13 chr21: 46,714,516-46,721,215 LINC00205
    nsv7018192copy number variation1nstd229human GRCh38 chr21: 44,959,542-45,647,565 , GRCh37.p13 chr21: 46,379,457-47,067,479 LINC00163, LINC01694, 19 more genes
    nsv6634428copy number variation1nstd102humanPathogenic GRCh37 chr21: 45,808,650-47,529,568 , GRCh38.p12 chr21: 44,388,767-46,109,654 KRTAP12-5P, MTCYBP21, 64 more genes
    nsv6626885copy number variation1nstd224human GRCh37 chr21: 46,641,617-47,007,872 , GRCh38.p12 chr21: 45,221,702-45,587,958 SLC19A1, LINC00334, 12 more genes
    nsv6626624copy number variation1nstd224human GRCh37 chr21: 1-48,129,895 , GRCh38.p12 chr21: 8,522,361-46,699,983 , ATP5PO, 657 more genes
    nsv6599512inversion1nstd223human GRCh38 chr21: 43,690,612-45,780,509 , GRCh37.p13 chr21: 45,110,493-47,200,423 ADARB1, AIRE, 84 more genes
    nsv6599116inversion1nstd223human GRCh38 chr21: 43,689,244-45,912,414 , GRCh37.p13 chr21: 45,109,125-47,332,328 ADARB1, AIRE, 85 more genes
    nsv6598071inversion1nstd223human GRCh38 chr21: 45,231,191-45,516,030 , GRCh37.p13 chr21: 46,651,106-46,935,944 LINC00205, MIR6815, 10 more genes
    nsv6554678copy number variation1nstd223human GRCh38 chr21: 45,297,356-45,297,644 , GRCh37.p13 chr21: 46,717,271-46,717,559 LINC00205
    nsv6549501copy number variation1nstd223human GRCh38 chr21: 45,294,555-45,301,339 , GRCh37.p13 chr21: 46,714,470-46,721,254 LINC00205
    nsv6549251copy number variation1nstd223human GRCh38 chr21: 45,291,501-45,293,200 , GRCh37.p13 chr21: 46,711,416-46,713,115 LINC00205
    nsv6548679copy number variation1nstd223human GRCh38 chr21: 45,295,571-45,296,047 , GRCh37.p13 chr21: 46,715,486-46,715,962 LINC00205
    nsv6543570copy number variation1nstd223human GRCh38 chr21: 45,145,659-45,425,181 , GRCh37.p13 chr21: 46,565,574-46,845,096 LINC00334, LOC105372839, 9 more genes
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