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Items: 1 to 20 of 215

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7077330inversion1nstd229human GRCh38 chr21: 20,333,755-29,497,356 , GRCh37.p13 chr21: 21,706,067-30,869,676 LOC105372770, LOC100419737, 95 more genes
    nsv7071358inversion1nstd229human GRCh38 chr21: 23,691,748-31,155,798 , GRCh37.p13 chr21: 25,064,065-32,528,116 LLPHP2, KRTAP20-3, 126 more genes
    nsv7066138inversion1nstd229human GRCh38 chr21: 22,253,885-27,921,241 , GRCh37.p13 chr21: 23,626,205-29,293,560 LOC107985516, D21S2088E, 57 more genes
    nsv7066097inversion1nstd229human GRCh38 chr21: 24,633,921-28,114,599 , GRCh37.p13 chr21: 26,006,235-29,486,918 ADAMTS5, MARCKSP1, 43 more genes
    nsv7065590inversion1nstd229human GRCh38 chr21: 23,756,613-30,931,318 , GRCh37.p13 chr21: 25,128,930-32,303,637 LINC01697, LOC105372753, 119 more genes
    nsv6634469copy number variation1nstd102humanPathogenic GRCh37 chr21: 15,006,457-29,046,428 , GRCh38.p12 chr21: 13,634,136-27,674,109 ADAMTS5, VN2R20P, 160 more genes
    nsv6626624copy number variation1nstd224human GRCh37 chr21: 1-48,129,895 , GRCh38.p12 chr21: 8,522,361-46,699,983 , ATP5PO, 657 more genes
    nsv6599782inversion1nstd223human GRCh38 chr21: 25,581,000-25,581,486 , GRCh37.p13 chr21: 26,953,312-26,953,798 LINC00515
    nsv6597243inversion1nstd223human GRCh38 chr21: 22,253,885-27,921,241 , GRCh37.p13 chr21: 23,626,205-29,293,560 EIF4A1P1, CYYR1-AS1, 57 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
    nsv6314187copy number variation1nstd102humanPathogenic GRCh37 chr21: 15,006,457-28,820,583 , GRCh38.p12 chr21: 13,634,136-27,448,264 D21S2088E, MIR548XHG, 158 more genes
    nsv6314041copy number variation1nstd102humanPathogenic GRCh37 chr21: 15,006,457-27,430,623 , GRCh38.p12 chr21: 13,634,136-26,058,307 SAMSN1-AS1, NRIP1, 142 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
    nsv6290189copy number variation1nstd102humanPathogenic GRCh37 chr21: 26,253,828-30,011,000 , GRCh38.p12 chr21: 24,881,514-28,638,678 MIR155, ADAMTS5, 45 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
    nsv6134054copy number variation1nstd213human GRCh37 chr21: 15,200,000-37,410,001 , GRCh38.p12 chr21: 13,827,679-36,037,703 , ATP5PF, 320 more genes
    nsv6130884insertion1nstd186human GRCh37 chr21: 10,697,897-44,966,043 , GRCh38.p12 chr21: 12,965,809-43,546,162 , APP, 533 more genes
    nsv5979500inversion1nstd209human GRCh38 chr21: 22,252,993-27,920,987 , GRCh37.p13 chr21: 23,625,313-29,293,306 , APP, 60 more genes
    nsv5539790insertion1nstd206human GRCh38 chr21: 5,227,438-39,583,816 , GRCh37.p13 chr21: 10,697,897-44,966,043 , LOC100419041, 557 more genes
    nsv5029288copy number variation1nstd200human GRCh38 chr21: 23,339,082-26,700,976 , GRCh37.p13 chr21: 24,711,404-28,073,295 LINC01684, CYYR1-AS1, 37 more genes
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