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Items: 1 to 20 of 131

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv6671644copy number variation1nstd229human GRCh38 chr2: 62,530,021-62,533,346 , GRCh37.p13 chr2: 62,757,156-62,760,481 RPL21P37
    nsv6671200copy number variation1nstd229human GRCh38 chr2: 61,917,934-63,365,574 , GRCh37.p13 chr2: 62,145,069-63,592,709 OTX1, RN7SL51P, 22 more genes
    nsv6664375copy number variation1nstd229human GRCh38 chr2: 62,508,720-62,534,309 , GRCh37.p13 chr2: 62,735,855-62,761,444 RPL21P37, TMEM17
    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
    nsv6343985copy number variation1nstd223human GRCh38 chr2: 62,530,021-62,533,345 , GRCh37.p13 chr2: 62,757,156-62,760,480 RPL21P37
    nsv6340128copy number variation1nstd223human GRCh38 chr2: 62,508,716-62,534,304 , GRCh37.p13 chr2: 62,735,851-62,761,439 TMEM17, RPL21P37
    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
    nsv6290680copy number variation1nstd102humanUncertain significance GRCh37 chr2: 62,729,606-62,789,220 , GRCh38.p12 chr2: 62,502,471-62,562,085 RSL24D1P2, TMEM17, 3 more genes
    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
    nsv5875319copy number variation1nstd209human GRCh38 chr2: 62,508,716-62,534,303 , GRCh37.p13 chr2: 62,735,851-62,761,438 TMEM17, RPL21P37
    nsv5554214mobile element insertion1nstd206human GRCh38 chr2: 43,826,578-177,947,868 , GRCh37.p13 chr2: 44,053,717-178,812,595 , POLR1B, 2149 more genes
    nsv5447229copy number variation1nstd206human GRCh38 chr2: 62,508,658-62,534,304 , GRCh37.p13 chr2: 62,735,793-62,761,439 RPL21P37, TMEM17
    nsv4770426copy number variation1nstd200human GRCh37 chr2: 62,735,855-62,761,439 , GRCh38.p12 chr2: 62,508,720-62,534,304 TMEM17, RPL21P37
    nsv4595711copy number variation1nstd183human GRCh37 chr2: 62,735,865-62,761,451 , GRCh38.p12 chr2: 62,508,730-62,534,316 TMEM17, RPL21P37
    nsv4399848copy number variation1nstd174human GRCh37 chr2: 62,734,718-62,761,542 , GRCh38.p12 chr2: 62,507,583-62,534,407 TMEM17, RPL21P37, 1 more genes
    nsv4072080copy number variation1nstd166human GRCh37.p13 chr2: 62,757,156-62,760,480 , GRCh38.p12 chr2: 62,530,021-62,533,345 RPL21P37
    nsv4055085copy number variation1nstd166human GRCh37.p13 chr2: 62,735,855-62,761,439 , GRCh38.p12 chr2: 62,508,720-62,534,304 TMEM17, RPL21P37
    nsv3916821copy number variation1nstd102humanPathogenic NCBI36 chr2: 47,701,031-86,783,356 , GRCh37.p13 chr2: 47,847,527-86,929,845 , GRCh38.p12 chr2: 47,620,388-86,702,722 NAGK, NRXN1-DT, 595 more genes
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