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Items: 1 to 20 of 284

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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
    nsv7064889inversion1nstd229human GRCh38 chr21: 41,632,756-44,900,321 , GRCh37.p13 chr21: 43,052,916-46,320,236 RNU6-1150P, LOC105372824, 123 more genes
    nsv7063620inversion1nstd229human GRCh38 chr21: 44,093,060-44,366,964 , GRCh37.p13 chr21: 45,512,941-45,786,847 LOC105377139, DNMT3L, 11 more genes
    nsv6637805copy number variation1nstd102humanUncertain significance GRCh37 chr21: 45,460,343-45,817,256 , GRCh38.p12 chr21: 44,040,462-44,397,373 DNMT3L, LOC105377139, 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
    nsv6599575inversion1nstd223human GRCh38 chr21: 36,496,811-44,407,132 , GRCh37.p13 chr21: 37,869,109-45,827,015 AIRE, CFAP410, 175 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
    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
    nsv6314006copy number variation1nstd102humanUncertain significance GRCh37 chr21: 45,071,606-45,703,897 , GRCh38.p12 chr21: 43,651,725-44,284,014 DNMT3L, MYL6P1, 24 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
    nsv6289996copy number variation1nstd102humanPathogenic GRCh37 chr21: 1-48,129,895 , GRCh38.p12 chr21: 8,522,361-46,699,983 KRTAP7-1, MAP3K7CL, 656 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
    nsv6107977inversion1nstd212human GRCh38 chr21: 43,336,435-44,419,523 , GRCh37.p13 chr21: 44,756,315-45,839,406 , AIRE, 40 more genes
    nsv5332112translocation1nstd200human GRCh37 chr21: 45,557,575-45,557,575 , GRCh37 chr21: 45,557,957-45,557,957 , GRCh38.p12 chr21: 44,138,075-44,138,075 , GRCh38.p12 chr21: 44,137,693-44,137,693 GATD3
    nsv4863427copy number variation1nstd200human GRCh37 chr21: 45,558,636-45,559,701 , GRCh38.p12 chr21: 44,138,754-44,139,819 GATD3
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