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Items: 1 to 20 of 115

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7098844copy number variation1nstd102humanUncertain significance GRCh37 chr2: 65,296,579-71,305,638 , GRCh38.p12 chr2: 65,069,445-71,078,508 SNRNP27, TEX261, 121 more genes
    nsv7096902copy number variation3nstd102humanPathogenic GRCh37 chr2: 71,004,499-74,779,761 , GRCh38.p12 chr2: 70,777,367-74,552,634 TAF13P2, LOC107985897, 100 more genes
    nsv7096520copy number variation1nstd102humanUncertain significance GRCh37 chr2: 69,240,632-74,779,761 , GRCh38.p12 chr2: 69,013,500-74,552,634 LOC112268419, DQX1, 140 more genes
    nsv7058023inversion1nstd229human GRCh38 chr2: 70,984,842-71,331,695 , GRCh37.p13 chr2: 71,260,430-71,558,825 TRE-CTC15-1, MCEE, 11 more genes
    nsv7043199inversion1nstd229human GRCh38 chr2: 70,623,217-71,162,741 , GRCh37.p13 chr2|NW_004504299.1: 189,499-599,580 , GRCh37.p13 chr2: 70,850,349-71,260,429 LOC105374796, MCEE, 22 more genes
    nsv6674785copy number variation1nstd229human GRCh38 chr2: 70,947,998-71,099,597 , GRCh37.p13 chr2|NW_004504299.1: 514,279-599,580 , GRCh37.p13 chr2: 71,175,128-71,260,429 LOC105374795, ATP6V1B1-AS1, 11 more genes
    nsv6665023copy number variation1nstd229human GRCh38 chr2: 70,974,401-71,107,500 , GRCh37.p13 chr2: 71,260,430-71,334,630 TRE-CTC15-1, LOC105374796, 7 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
    nsv6540618inversion1nstd223human GRCh38 chr2: 70,984,841-71,331,694 , GRCh37.p13 chr2: 71,260,430-71,558,824 ANKRD53, OR7E62P, 11 more genes
    nsv6315390copy number variation1nstd102humanPathogenic GRCh37 chr2: 1-243,199,373 , GRCh38.p12 chr2: 10,001-242,157,305 LOC112268439, RNA5SP116, 3737 more genes
    nsv6315247copy number variation1nstd102humanUncertain significance GRCh38 chr2: 69,512,973-71,153,026 , GRCh37.p13 chr2: 69,740,105-71,380,156 TIA1, SNRPG, 52 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
    nsv6298251copy number variation1nstd186human GRCh37 chr2: 71,217,154-71,228,110 , GRCh38.p12 chr2: 70,990,024-71,000,980 TEX261, LOC105374796
    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
    nsv5448298copy number variation1nstd206human GRCh38 chr2: 70,986,915-70,987,533 , GRCh37.p13 chr2|NW_004504299.1: 553,196-553,814 , GRCh37.p13 chr2: 71,214,045-71,214,663 ANKRD53, TEX261
    nsv5438199copy number variation1nstd206human GRCh38 chr2: 70,990,024-71,000,980 , GRCh37.p13 chr2|NW_004504299.1: 556,305-567,261 , GRCh37.p13 chr2: 71,217,154-71,228,110 TEX261, LOC105374796
    nsv4664972copy number variation1nstd186human GRCh37 chr2: 71,214,055-71,214,675 , GRCh38.p12 chr2: 70,986,925-70,987,545 TEX261, ANKRD53
    nsv4586513copy number variation1nstd183human GRCh37 chr2: 71,215,632-71,272,144 , GRCh38.p12 chr2: 70,988,502-71,045,014 TRE-CTC15-1, TEX261, 3 more genes
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