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Items: 1 to 20 of 251

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7096671copy number variation2nstd102humanUncertain significance, Pathogenic GRCh38.p12 chr2: 60,881,841-61,048,770 , GRCh37 chr2: 61,108,976-61,275,905 PEX13, REL, 5 more genes
    nsv7045959inversion1nstd229human GRCh38 chr2: 60,077,865-60,933,637 , GRCh37.p13 chr2: 60,305,000-61,160,772 RN7SL632P, IFITM3P9, 14 more genes
    nsv7044192inversion1nstd229human GRCh38 chr2: 57,467,952-62,408,360 , GRCh37.p13 chr2: 57,695,087-62,635,495 RNA5SP94, PUS10, 62 more genes
    nsv6677172copy number variation1nstd229human GRCh38 chr2: 60,908,949-60,914,258 , GRCh37.p13 chr2: 61,136,084-61,141,393 REL, RNU4-51P
    nsv6668273copy number variation1nstd229human GRCh38 chr2: 60,925,007-60,940,345 , GRCh37.p13 chr2: 61,152,142-61,167,480 RPS12P3, PUS10, 2 more genes
    nsv6663080copy number variation1nstd229human GRCh38 chr2: 60,911,836-60,912,560 , GRCh37.p13 chr2: 61,138,971-61,139,695 REL, RNU4-51P
    nsv6636727copy number variation1nstd102humanUncertain significance GRCh37 chr2: 61,039,123-61,178,193 , GRCh38.p12 chr2: 60,811,988-60,951,058 RPL21P33, PUS10, 6 more genes
    nsv6636194copy number variation1nstd102humanLikely pathogenic GRCh37 chr2: 60,680,467-61,527,143 , GRCh38.p12 chr2: 60,453,332-61,300,008 ATP1B3P1, PEX13, 22 more genes
    nsv6635059copy number variation1nstd227human GRCh38.p12 chr2: 60,885,417-61,121,669 , GRCh37 chr2: 61,112,552-61,348,804 PEX13, REL, 6 more genes
    nsv6634330copy number variation1nstd102humanPathogenic GRCh37 chr2: 11,504,318-111,365,996 , GRCh38.p12 chr2: 11,364,192-110,608,419 CYP1B1-AS1, LOC107985771, 1649 more genes
    nsv6547761inversion1nstd223human GRCh38 chr2: 60,903,596-60,904,352 , GRCh37.p13 chr2: 61,130,731-61,131,487 REL
    nsv6547421inversion1nstd223human GRCh38 chr2: 60,911,992-60,915,086 , GRCh37.p13 chr2: 61,139,127-61,142,221 REL
    nsv6353145copy number variation1nstd223human GRCh38 chr2: 60,899,002-60,899,624 , GRCh37.p13 chr2: 61,126,137-61,126,759 REL
    nsv6315390copy number variation1nstd102humanPathogenic GRCh37 chr2: 1-243,199,373 , GRCh38.p12 chr2: 10,001-242,157,305 LOC112268439, RNA5SP116, 3737 more genes
    nsv6314726copy number variation1nstd102humanLikely pathogenic GRCh37 chr2: 40,607,042-146,902,764 , GRCh38.p12 chr2: 40,379,902-146,145,196 ACTG2, ACYP2, 1713 more genes
    nsv6278355insertion1nstd214human GRCh38 chr2: 60,926,682-60,926,682 , GRCh37.p13 chr2: 61,153,817-61,153,817 REL
    nsv6134545copy number variation2nstd213human GRCh37 chr2: 47,990,000-75,070,001 , GRCh38.p12 chr2: 47,762,861-74,842,874 ACTG2, ACYP2, 438 more genes
    nsv6134457copy number variation1nstd213human GRCh37 chr2: 38,410,000-75,540,001 , GRCh38.p12 chr2: 38,182,858-75,312,875 , ACTG2, 598 more genes
    nsv5554214mobile element insertion1nstd206human GRCh38 chr2: 43,826,578-177,947,868 , GRCh37.p13 chr2: 44,053,717-178,812,595 , POLR1B, 2149 more genes
    nsv5433947copy number variation1nstd206human GRCh38 chr2: 60,911,836-60,912,565 , GRCh37.p13 chr2: 61,138,971-61,139,700 RNU4-51P, REL
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