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Items: 1 to 20 of 121

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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
    nsv7052037inversion1nstd229human GRCh38 chr2: 69,732,002-70,868,430 , GRCh37.p13 chr2: 69,959,134-70,660,850 PCYOX1, FAM136A, 30 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
    nsv7042226inversion1nstd229human GRCh38 chr2: 69,994,280-70,959,896 , GRCh37.p13 chr2|NW_004504299.1: 1-526,177 , GRCh37.p13 chr2: 70,660,851-71,187,026 PCBP1-AS1, SNRPG, 28 more genes
    nsv7040819inversion1nstd229human GRCh38 chr2: 70,779,064-70,779,138 , GRCh37.p13 chr2|NW_004504299.1: 345,346-345,420 , GRCh37.p13 chr2: 71,006,196-71,006,270 FIGLA
    nsv6667463copy number variation1nstd229human GRCh38 chr2: 70,772,553-70,780,609 , GRCh37.p13 chr2|NW_004504299.1: 338,835-346,891 , GRCh37.p13 chr2: 70,999,685-71,007,741 FIGLA
    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
    nsv6541830inversion1nstd223human GRCh38 chr2: 69,732,004-70,868,425 , GRCh37.p13 chr2: 69,959,136-70,660,850 LOC105374794, BRD7P6, 30 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
    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
    nsv5989867copy number variation1nstd212human GRCh38 chr2: 70,785,140-70,785,193 , GRCh37.p13 chr2|NW_004504299.1: 351,422-351,475 , GRCh37.p13 chr2: 71,012,272-71,012,325 FIGLA
    nsv5554214mobile element insertion1nstd206human GRCh38 chr2: 43,826,578-177,947,868 , GRCh37.p13 chr2: 44,053,717-178,812,595 , POLR1B, 2149 more genes
    nsv5219648copy number variation1nstd204human GRCh38.p13 chr2: 70,777,761-70,779,360 , GRCh37.p13 chr2: 71,004,893-71,006,492 , GRCh37.p13 chr2|NW_004504299.1: 344,043-345,642 FIGLA
    nsv5215767copy number variation1nstd204human GRCh37.p13 chr2|NW_004504299.1: 146,283-444,281 , GRCh37.p13 chr2: 70,807,133-71,105,130 , GRCh38.p13 chr2: 70,580,001-70,878,000 ADD2, CD207, 5 more genes
    nsv5214203copy number variation1nstd204human GRCh38.p13 chr2: 70,783,961-70,798,357 , GRCh37.p13 chr2: 71,011,093-71,025,489 , GRCh37.p13 chr2|NW_004504299.1: 350,243-364,639 FIGLA
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