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Items: 1 to 20 of 367

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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
    nsv7076434inversion1nstd229human GRCh38 chr21: 42,407,022-42,412,882 , GRCh37.p13 chr21: 43,827,131-43,832,991 UBASH3A
    nsv7072799inversion1nstd229human GRCh38 chr21: 41,886,117-43,786,596 , GRCh37.p13 chr21: 43,306,226-45,206,477 ZNF295-AS1, LINC01668, 57 more genes
    nsv7064889inversion1nstd229human GRCh38 chr21: 41,632,756-44,900,321 , GRCh37.p13 chr21: 43,052,916-46,320,236 RNU6-1150P, LOC105372824, 123 more genes
    nsv7059071inversion1nstd229human GRCh38 chr21: 42,412,769-42,459,287 , GRCh37.p13 chr21: 43,832,878-43,879,397 RNU6-1149P, UBASH3A
    nsv7037833copy number variation1nstd229human GRCh38 chr21: 42,418,366-42,432,970 , GRCh37.p13 chr21: 43,838,475-43,853,079 UBASH3A
    nsv7030895copy number variation1nstd229human GRCh38 chr21: 42,404,468-42,406,783 , GRCh37.p13 chr21: 43,824,577-43,826,892 UBASH3A
    nsv7028094copy number variation1nstd229human GRCh38 chr21: 42,412,120-42,430,958 , GRCh37.p13 chr21: 43,832,229-43,851,067 UBASH3A, RNU6-1149P
    nsv7027011copy number variation1nstd229human GRCh38 chr21: 42,282,878-43,017,165 , GRCh37.p13 chr21: 43,702,988-44,437,275 LOC105372817, RNU6-1149P, 23 more genes
    nsv7026875copy number variation1nstd229human GRCh38 chr21: 42,439,388-42,439,781 , GRCh37.p13 chr21: 43,859,498-43,859,891 UBASH3A
    nsv7024099copy number variation1nstd229human GRCh38 chr21: 41,989,601-42,863,900 , GRCh37.p13 chr21: 43,409,710-44,284,010 PDE9A, RNA5SP492, 25 more genes
    nsv7023702copy number variation1nstd229human GRCh38 chr21: 42,416,494-42,424,615 , GRCh37.p13 chr21: 43,836,603-43,844,724 UBASH3A, RNU6-1149P
    nsv7023253copy number variation1nstd229human GRCh38 chr21: 42,421,580-42,842,995 , GRCh37.p13 chr21: 43,841,689-44,263,105 LOC107987299, LOC101928255, 11 more genes
    nsv7019948copy number variation1nstd229human GRCh38 chr21: 40,558,832-43,971,067 , GRCh37.p13 chr21: 41,930,759-45,390,948 LOC105372821, PDXK, 86 more genes
    nsv7018740copy number variation1nstd229human GRCh38 chr21: 42,402,901-42,440,700 , GRCh37.p13 chr21: 43,823,010-43,860,810 UBASH3A, RNU6-1149P
    nsv6637459copy number variation1nstd102humanPathogenic GRCh37 chr21: 42,046,399-45,109,188 , GRCh38.p12 chr21: 40,674,473-43,689,307 LOC101928255, RRP1B, 74 more genes
    nsv6627017copy number variation1nstd224human GRCh37 chr21: 43,833,280-43,896,015 , GRCh38.p12 chr21: 42,413,171-42,475,905 UBASH3A, RNU6-1149P, 1 more genes
    nsv6626879copy number variation1nstd224human GRCh37 chr21: 43,833,209-43,892,939 , GRCh38.p12 chr21: 42,413,100-42,472,829 RSPH1, UBASH3A, 1 more genes
    nsv6626647copy number variation1nstd224human GRCh37 chr21: 43,833,280-43,892,951 , GRCh38.p12 chr21: 42,413,171-42,472,841 RSPH1, UBASH3A, 1 more genes
    nsv6626624copy number variation1nstd224human GRCh37 chr21: 1-48,129,895 , GRCh38.p12 chr21: 8,522,361-46,699,983 , ATP5PO, 657 more genes
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