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Items: 18

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    Number of Variants: 18

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv4451348copy number variation1nstd102humanUncertain significance GRCh37 chr2: 74,364,945-74,476,818 , GRCh38.p12 chr2: 74,137,818-74,249,691 BOLA3, MTHFD2, 3 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 BOLA3, DAZAP2P1, 2991 more genes
    nsv6634330copy number variation1nstd102humanPathogenic GRCh37 chr2: 11,504,318-111,365,996 , GRCh38.p12 chr2: 11,364,192-110,608,419 BOLA3, CYP1B1-AS1, 1649 more genes
    nsv3877742copy number variation1nstd102humanPathogenic GRCh37 chr2: 74,365,484-89,129,064 , GRCh38.p12 chr2: 74,138,357-88,829,551 BOLA3, RNU6-561P, 253 more genes
    nsv7096902copy number variation3nstd102humanPathogenic GRCh37 chr2: 71,004,499-74,779,761 , GRCh38.p12 chr2: 70,777,367-74,552,634 BOLA3, TAF13P2, 100 more genes
    nsv7096907copy number variation2nstd102humanPathogenic GRCh37 chr2: 72,359,356-74,779,761 , GRCh38.p12 chr2: 72,132,227-74,552,634 BOLA3, RNU6-111P, 71 more genes
    nsv6315390copy number variation1nstd102humanPathogenic GRCh37 chr2: 1-243,199,373 , GRCh38.p12 chr2: 10,001-242,157,305 BOLA3, LOC112268439, 3737 more genes
    nsv3874648copy number variation1nstd102humanPathogenic GRCh37 chr2: 15,672-243,101,834 , GRCh38.p12 chr2: 15,672-242,157,305 BOLA3, IGKV2OR2-10, 3737 more genes
    nsv3885544copy number variation1nstd102humanPathogenic GRCh37 chr2: 14,238-243,048,760 , GRCh38.p12 chr2: 14,238-242,106,609 BOLA3, RNU6-674P, 3735 more genes
    nsv3882615copy number variation2nstd102humanPathogenic GRCh37 chr2: 12,771-242,783,384 , GRCh38.p12 chr2: 12,771-241,841,232 BOLA3, MTND2P22, 3724 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 BOLA3, NAGK, 595 more genes
    nsv3900298copy number variation1nstd102humanPathogenic GRCh37 chr2: 58,506,654-83,814,086 , GRCh38 chr2: 58,279,519-83,586,962 , NCBI36 chr2: 58,360,158-83,667,597 BOLA3, MIR1285-2, 404 more genes
    nsv3883931copy number variation1nstd102humanPathogenic GRCh37 chr2: 63,671,346-85,698,002 , GRCh38.p12 chr2: 63,444,212-85,470,879 BOLA3, LINC01888, 367 more genes
    nsv6314726copy number variation1nstd102humanLikely pathogenic GRCh37 chr2: 40,607,042-146,902,764 , GRCh38.p12 chr2: 40,379,902-146,145,196 BOLA3, ACTG2, 1713 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 BOLA3, LOC101927723, 1246 more genes
    nsv7098872copy number variation1nstd102humanUncertain significance GRCh37 chr2: 73,716,761-75,347,894 , GRCh38.p12 chr2: 73,489,634-75,120,768 BOLA3, RTKN, 61 more genes
    nsv3910804copy number variation1nstd102humanUncertain significance NCBI36 chr2: 74,202,777-74,357,246 , GRCh37.p13 chr2: 74,349,269-74,503,738 , GRCh38.p12 chr2: 74,122,142-74,276,611 BOLA3, SLC4A5, 5 more genes
    nsv7096520copy number variation1nstd102humanUncertain significance GRCh37 chr2: 69,240,632-74,779,761 , GRCh38.p12 chr2: 69,013,500-74,552,634 BOLA3, LOC112268419, 140 more genes
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