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Items: 1 to 20 of 307

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7073975inversion1nstd229human GRCh38 chr21: 15,461,613-19,798,022 , GRCh37.p13 chr21: 16,833,932-21,170,336 MIR548XHG, SLC6A6P1, 41 more genes
    nsv7069235inversion1nstd229human GRCh38 chr21: 15,814,137-22,638,792 , GRCh37.p13 chr21: 17,186,456-24,011,111 RNU1-98P, CHODL-AS1, 56 more genes
    nsv7065993inversion1nstd229human GRCh38 chr21: 15,218,544-21,902,830 , GRCh37.p13 chr21: 16,590,864-23,275,150 LOC107985490, MIR548XHG, 56 more genes
    nsv7036906copy number variation1nstd229human GRCh38 chr21: 17,802,639-17,853,307 , GRCh37.p13 chr21: 19,174,956-19,225,624 CHODL, CHODL-AS1, 1 more genes
    nsv7035658copy number variation1nstd229human GRCh38 chr21: 17,795,699-17,806,840 , GRCh37.p13 chr21: 19,168,016-19,179,157 C21orf91
    nsv7034688copy number variation1nstd229human GRCh38 chr21: 17,809,906-17,813,309 , GRCh37.p13 chr21: 19,182,223-19,185,626 C21orf91
    nsv7027840copy number variation1nstd229human GRCh38 chr21: 14,377,890-22,678,900 , GRCh37.p13 chr21: 15,750,211-24,051,220 C1QBPP1, VDAC2P1, 74 more genes
    nsv7026383copy number variation1nstd229human GRCh38 chr21: 17,789,312-17,789,832 , GRCh37.p13 chr21: 19,161,629-19,162,149 C21orf91, C21orf91-OT1
    nsv7023092copy number variation1nstd229human GRCh38 chr21: 17,779,793-17,813,501 , GRCh37.p13 chr21: 19,152,110-19,185,818 C21orf91, C21orf91-OT1
    nsv7022703copy number variation1nstd229human GRCh38 chr21: 17,800,578-17,809,964 , GRCh37.p13 chr21: 19,172,895-19,182,281 C21orf91
    nsv7020773copy number variation1nstd229human GRCh38 chr21: 17,690,088-17,831,578 , GRCh37.p13 chr21: 19,062,406-19,203,895 CHODL, C21orf91, 1 more genes
    nsv7019853copy number variation1nstd229human GRCh38 chr21: 17,231,032-17,884,423 , GRCh37.p13 chr21: 18,603,350-19,256,740 BTF3L4P1, CXADR, 12 more genes
    nsv6637761copy number variation1nstd102humanUncertain significance GRCh37 chr21: 15,006,458-21,778,529 , GRCh38.p12 chr21: 13,634,137-20,406,217 ASMER1, ERLEC1P1, 91 more genes
    nsv6637579copy number variation1nstd102humanUncertain significance GRCh37 chr21: 19,139,329-19,613,840 , GRCh38.p12 chr21: 17,767,012-18,241,523 CHODL-AS1, C21orf91-OT1, 3 more genes
    nsv6637168copy number variation1nstd102humanUncertain significance GRCh37 chr21: 18,599,500-19,253,537 , GRCh38.p12 chr21: 17,227,182-17,881,220 CXADR, TRG-GCC1-5, 12 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
    nsv6596476inversion1nstd223human GRCh38 chr21: 17,794,810-17,795,548 , GRCh37.p13 chr21: 19,167,127-19,167,865 C21orf91
    nsv6552792copy number variation1nstd223human GRCh38 chr21: 17,789,801-17,794,000 , GRCh37.p13 chr21: 19,162,118-19,166,317 C21orf91, C21orf91-OT1
    nsv6547719copy number variation1nstd223human GRCh38 chr21: 17,791,601-17,792,154 , GRCh37.p13 chr21: 19,163,918-19,164,471 C21orf91-OT1, C21orf91
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