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Items: 1 to 20 of 172

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7052230inversion1nstd229human GRCh38 chr2: 113,516,629-113,603,263 , GRCh37.p13 chr2: 114,274,206-114,360,840 DDX11L2, FAM138B, 4 more genes
    nsv7047201inversion1nstd229human GRCh38 chr2: 113,135,467-114,194,806 , GRCh37.p13 chr2: 113,893,044-114,952,383 SLC35F5, ACRP1, 26 more genes
    nsv7044064inversion1nstd229human GRCh38 chr2: 112,019,946-120,004,832 , GRCh37.p13 chr2: 112,777,523-120,762,408 LOC105373563, IL1A, 112 more genes
    nsv7042586inversion1nstd229human GRCh38 chr2: 111,572,275-118,829,502 , GRCh37.p13 chr2: 112,329,852-119,587,078 LOC105373579, NT5DC4, 103 more genes
    nsv6553311inversion1nstd223human GRCh38 chr2: 113,382,126-121,687,299 , GRCh37.p13 chr2: 114,139,703-122,444,875 RPSAP23, CCDC93, 98 more genes
    nsv6344490copy number variation1nstd223human GRCh38 chr2: 113,468,001-113,722,400 , GRCh37.p13 chr2: 114,225,578-114,479,977 ZNG1B, RPL23AP7, 15 more genes
    nsv6337775copy number variation1nstd223human GRCh38 chr2: 113,469,601-113,720,200 , GRCh37.p13 chr2: 114,227,178-114,477,777 FOXD4L1, ZNG1B, 15 more genes
    nsv6315390copy number variation1nstd102humanPathogenic GRCh37 chr2: 1-243,199,373 , GRCh38.p12 chr2: 10,001-242,157,305 LOC112268439, RNA5SP116, 3737 more genes
    nsv6314748copy number variation1nstd102humanPathogenic GRCh37 chr2: 112,475,655-145,691,999 , GRCh38.p12 chr2: 111,718,078-144,934,432 MED15P9, TMEM37, 474 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
    nsv6313770copy number variation1nstd102humanPathogenic GRCh37 chr2: 113,188,197-128,144,700 , GRCh38.p12 chr2: 112,430,620-127,387,124 LOC105373575, RPS20P11, 174 more genes
    nsv6296225copy number variation1nstd186human GRCh37 chr2: 113,990,735-114,562,290 , GRCh38.p12 chr2: 113,233,158-113,804,713 , PAX8-AS1, 22 more genes
    nsv6291353copy number variation1nstd102humanPathogenic GRCh37 chr2: 111,484,468-146,333,604 , GRCh38.p12 chr2: 110,726,891-145,576,036 LINC01120, LOC105373585, 490 more genes
    nsv6291014copy number variation1nstd102humanUncertain significance GRCh37 chr2: 113,609,489-115,817,535 , GRCh38.p12 chr2: 112,851,912-115,059,958 PSD4, PGM5P4, 43 more genes
    nsv5665203inversion1nstd207human GRCh38 chr2: 113,578,563-113,598,318 , GRCh37.p13 chr2: 114,336,140-114,355,895 DDX11L2, WASH2P, 2 more genes
    nsv5558142mobile element insertion1nstd206human GRCh38 chr2: 102,295,972-141,288,199 , GRCh37.p13 chr2: 102,912,432-142,045,768 , LOC105373587, 623 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
    nsv5442742copy number variation1nstd206human GRCh38 chr2: 113,233,158-113,804,713 , GRCh37.p13 chr2: 113,990,735-114,562,290 , SLC35F5, 22 more genes
    nsv5288343copy number variation1nstd204human GRCh38.p13 chr2: 113,322,640-114,227,007 , GRCh37.p13 chr2: 114,080,217-114,984,584 , FOXD4L1, 24 more genes
    nsv5211216copy number variation1nstd204human GRCh38.p13 chr2: 113,580,401-113,584,000 , GRCh37.p13 chr2: 114,337,978-114,341,577 WASH2P, MIR1302-3
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