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Items: 1 to 20 of 325

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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
    nsv7076046inversion1nstd229human GRCh38 chr21: 42,633,367-44,550,173 , GRCh37.p13 chr21: 44,053,477-45,916,560 MYL6P1, MIR5692B, 68 more genes
    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
    nsv7032059copy number variation1nstd229human GRCh38 chr21: 43,207,013-43,892,998 , GRCh37.p13 chr21: 44,627,123-45,312,879 RPL31P1, LINC03039, 19 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
    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
    nsv6626624copy number variation1nstd224human GRCh37 chr21: 1-48,129,895 , GRCh38.p12 chr21: 8,522,361-46,699,983 , ATP5PO, 657 more genes
    nsv6599575inversion1nstd223human GRCh38 chr21: 36,496,811-44,407,132 , GRCh37.p13 chr21: 37,869,109-45,827,015 AIRE, CFAP410, 175 more genes
    nsv6315551copy number variation1nstd102humanPathogenic GRCh37 chr21: 14,420,615-48,080,926 , GRCh38.p12 chr21: 13,048,294-46,661,014 LTN1, LOC105372740, 622 more genes
    nsv6315496copy number variation1nstd102humanPathogenic GRCh37 chr21: 42,679,089-48,097,372 , GRCh38.p12 chr21: 41,307,162-46,677,460 TMEM97P1, LOC105372839, 177 more genes
    nsv6314065copy number variation1nstd102humanUncertain significance GRCh37 chr21: 44,850,469-45,257,348 , GRCh38.p12 chr21: 43,430,589-43,837,467 PDXK, H2BC12L, 13 more genes
    nsv6313951copy number variation1nstd102humanPathogenic GRCh37 chr21: 15,041,209-48,097,372 , GRCh38.p12 chr21: 13,668,888-46,677,460 LOC107985515, ATP5PF, 606 more genes
    nsv6311252copy number variation1nstd102humanUncertain significance GRCh37 chr21: 44,473,990-47,865,240 , GRCh38.p12 chr21: 43,053,880-46,445,327 FRGCA, KRTAP12-3, 121 more genes
    nsv6311066copy number variation4nstd102humanPathogenic, Uncertain significance GRCh37 chr21: 43,160,998-47,865,240 , GRCh38.p12 chr21: 41,740,838-46,445,327 TSPEAR-AS2, PSMA6P3, 159 more genes
    nsv6306052copy number variation1nstd186human GRCh37 chr21: 44,833,342-44,990,343 , GRCh38.p12 chr21: 43,413,462-43,570,462 , HSF2BP, 6 more genes
    nsv6289996copy number variation1nstd102humanPathogenic GRCh37 chr21: 1-48,129,895 , GRCh38.p12 chr21: 8,522,361-46,699,983 KRTAP7-1, MAP3K7CL, 656 more genes
    nsv6146639copy number variation1nstd206human GRCh38 chr21: 43,413,462-43,570,462 , GRCh37.p13 chr21: 44,833,342-44,990,343 , HSF2BP, 6 more genes
    nsv6134577copy number variation1nstd213human GRCh37 chr21: 44,700,000-45,720,001 , GRCh38.p12 chr21: 43,280,120-44,300,118 CSTB, HSF2BP, 35 more genes
    nsv6130884insertion1nstd186human GRCh37 chr21: 10,697,897-44,966,043 , GRCh38.p12 chr21: 12,965,809-43,546,162 , APP, 533 more genes
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