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Items: 1 to 20 of 188

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5567884copy number variation1nstd207human GRCh38 chr1: 200,911,058-200,911,108 , GRCh37.p13 chr1: 200,880,186-200,880,236 INAVA
    nsv5443012copy number variation1nstd206human GRCh38 chr1: 200,816,945-200,935,553 , GRCh37.p13 chr1: 200,786,073-200,904,681 , GPR25, 5 more genes
    nsv5381285copy number variation2nstd102humanUncertain significance GRCh37 chr1: 130,980,840-248,900,000 , GRCh38.p12 chr1: 120,324,463-248,736,699 , DCST1, 2428 more genes
    nsv5295318copy number variation1nstd204human GRCh38.p13 chr1: 200,816,981-200,909,193 , GRCh37.p13 chr1: 200,786,109-200,878,321 , INAVA, 3 more genes
    nsv5220285copy number variation1nstd204human GRCh38.p13 chr1: 200,873,169-200,909,092 , GRCh37.p13 chr1: 200,842,297-200,878,220 , INAVA, 1 more genes
    nsv5206547copy number variation1nstd204human GRCh37.p13 chr1: 200,786,529-200,990,528 , GRCh38.p13 chr1: 200,817,401-201,021,400 , GPR25, 6 more genes
    nsv5203583copy number variation1nstd204human GRCh38.p13 chr1: 200,912,824-200,917,249 , GRCh37.p13 chr1: 200,881,952-200,886,377 INAVA
    nsv4904244copy number variation1nstd200human GRCh38 chr1: 200,816,945-200,890,797 , GRCh37.p13 chr1: 200,786,073-200,859,925 , INAVA, 3 more genes
    nsv4781390copy number variation1nstd200human GRCh37 chr1: 200,786,072-200,859,926 , GRCh38.p12 chr1: 200,816,944-200,890,798 , INAVA, 3 more genes
    nsv4767860inversion1nstd199human GRCh37 chr1: 17,051,740-234,912,187 , GRCh38.p12 chr1: 16,725,245-234,776,440 , ABCA4, 4269 more genes
    nsv4751400inversion1nstd199human GRCh37 chr1: 17,125,657-234,919,132 , GRCh38.p12 chr1: 16,799,162-234,783,385 , ABCA4, 4264 more genes
    nsv4733135copy number variation1nstd199human GRCh37 chr1: 200,880,149-200,880,202 , GRCh38.p12 chr1: 200,911,021-200,911,074 INAVA
    nsv4685577copy number variation1nstd102humannot provided GRCh37 chr1: 194,356,425-210,988,710 , GRCh38.p12 chr1: 194,387,295-210,815,368 SEPTIN14P12, LINC02602, 332 more genes
    nsv4679918copy number variation1nstd189human GRCh37.p13 chr1: 200,578,042-200,907,372 , GRCh38.p12 chr1: 200,608,914-200,938,244 , GPR25, 8 more genes
    nsv4580430copy number variation1nstd183human GRCh37 chr1: 200,788,831-200,876,497 , GRCh38.p12 chr1: 200,819,703-200,907,369 , RPL34P6, 3 more genes
    nsv4516537copy number variation1nstd166human GRCh37.p13 chr1: 200,587,598-200,863,000 , GRCh38.p12 chr1: 200,618,470-200,893,872 , GPR25, 6 more genes
    nsv4460407mobile element insertion1nstd166human GRCh37.p13 chr1: 200,877,222-200,877,222 , GRCh38.p12 chr1: 200,908,094-200,908,094 INAVA
    nsv4450583copy number variation1nstd102humanPathogenic GRCh37 chr1: 182,388,773-249,111,240 , GRCh38.p12 chr1: 182,419,638-248,817,041 RGS18, LINC02257, 1186 more genes
    nsv4440624copy number variation1nstd175human GRCh37 chr1: 200,880,186-200,880,237 , GRCh38.p12 chr1: 200,911,058-200,911,109 INAVA
    nsv4406125copy number variation1nstd174human GRCh37 chr1: 200,791,954-200,906,473 , GRCh38.p12 chr1: 200,822,826-200,937,345 , GPR25, 5 more genes
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