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Items: 1 to 20 of 91

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv6690492copy number variation1nstd229human GRCh38 chr2: 85,419,187-85,528,322 , GRCh37.p13 chr2: 85,646,310-85,755,445 RPSAP22, SH2D6, 2 more genes
    nsv6681244copy number variation1nstd229human GRCh38 chr2: 85,286,438-85,844,313 , GRCh37.p13 chr2: 85,513,561-86,071,436 RETSAT, SH2D6, 30 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
    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
    nsv6313890copy number variation1nstd102humanPathogenic GRCh37 chr2: 82,486,900-87,322,042 , GRCh38.p12 chr2: 82,259,776-87,094,919 LOC105374836, LOC105374833, 93 more genes
    nsv6134226copy number variation1nstd213human GRCh37 chr2: 85,629,473-85,673,182 , GRCh38.p12 chr2: 85,402,350-85,446,059 CAPG, SH2D6, 3 more genes
    nsv6134133copy number variation1nstd213human GRCh37 chr2: 85,629,468-85,673,182 , GRCh38.p12 chr2: 85,402,345-85,446,059 CAPG, SH2D6, 3 more genes
    nsv6112750copy number variation1nstd102humanPathogenic GRCh37 chr2: 81,209,244-86,688,030 , GRCh38.p12 chr2: 80,982,120-86,460,907 VAMP8, TMSB10, 86 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
    nsv5380485translocation1nstd200human GRCh38 chr2: 85,440,584-85,440,584 , GRCh38 chr2: 86,149,732-86,149,732 , GRCh37.p13 chr2: 85,667,707-85,667,707 , GRCh37.p13 chr2: 86,376,855-86,376,855 IMMT, RNU7-64P, 1 more genes
    nsv5035923inversion1nstd200human GRCh38 chr2: 83,726,586-172,391,178 , GRCh37.p13 chr2: 83,953,710-173,255,906 , MTND2P21, 1427 more genes
    nsv4902366copy number variation1nstd200human GRCh38 chr2: 85,441,722-85,441,954 , GRCh37.p13 chr2: 85,668,845-85,669,077 RNU7-64P, RN7SL251P
    nsv4673943copy number variation1nstd102humanUncertain significance GRCh37 chr2: 85,357,332-85,685,465 , GRCh38.p12 chr2: 85,130,209-85,458,342 SNRPEP11, PEBP1P2, 13 more genes
    nsv4595820copy number variation1nstd183human GRCh37 chr2: 85,505,867-85,911,446 , GRCh38.p12 chr2: 85,278,744-85,684,323 , RN7SL251P, 23 more genes
    nsv4584593copy number variation1nstd183human GRCh37 chr2: 85,508,825-85,911,677 , GRCh38.p12 chr2: 85,281,702-85,684,554 , USP39, 24 more genes
    nsv4451607copy number variation1nstd102humanPathogenic GRCh37 chr2: 77,907,114-87,330,965 , GRCh38.p12 chr2: 77,679,988-87,103,842 REEP1, RBX1P1, 134 more genes
    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
    nsv3910630copy number variation1nstd102humanPathogenic NCBI36 chr2: 50,739,936-242,751,149 , GRCh37.p13 chr2: 50,886,432-243,102,476 , GRCh38.p12 chr2: 50,659,294-242,160,331 DAZAP2P1, RPL36AP16, 2991 more genes
    nsv3903805copy number variation1nstd102humanBenign GRCh37 chr2: 7,635,254-88,005,418 , NCBI36 chr2: 7,552,705-87,786,533 , GRCh38 chr2: 7,495,123-87,705,899 LOC101927723, SANBR, 1246 more genes
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