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Items: 19

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    Number of Variants: 19

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    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 CCDC142, DAZAP2P1, 2991 more genes
    nsv6634330copy number variation1nstd102humanPathogenic GRCh37 chr2: 11,504,318-111,365,996 , GRCh38.p12 chr2: 11,364,192-110,608,419 CCDC142, 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 CCDC142, RNU6-561P, 253 more genes
    nsv3886532copy number variation1nstd102humanPathogenic GRCh37 chr2: 74,527,522-89,125,488 , GRCh38.p12 chr2: 74,300,395-88,825,975 CCDC142, RNU6-561P, 249 more genes
    nsv7096902copy number variation3nstd102humanPathogenic GRCh37 chr2: 71,004,499-74,779,761 , GRCh38.p12 chr2: 70,777,367-74,552,634 CCDC142, TAF13P2, 100 more genes
    nsv7096907copy number variation2nstd102humanPathogenic GRCh37 chr2: 72,359,356-74,779,761 , GRCh38.p12 chr2: 72,132,227-74,552,634 CCDC142, RNU6-111P, 71 more genes
    nsv6315390copy number variation1nstd102humanPathogenic GRCh37 chr2: 1-243,199,373 , GRCh38.p12 chr2: 10,001-242,157,305 CCDC142, LOC112268439, 3737 more genes
    nsv3874648copy number variation1nstd102humanPathogenic GRCh37 chr2: 15,672-243,101,834 , GRCh38.p12 chr2: 15,672-242,157,305 CCDC142, IGKV2OR2-10, 3737 more genes
    nsv3885544copy number variation1nstd102humanPathogenic GRCh37 chr2: 14,238-243,048,760 , GRCh38.p12 chr2: 14,238-242,106,609 CCDC142, RNU6-674P, 3735 more genes
    nsv3882615copy number variation2nstd102humanPathogenic GRCh37 chr2: 12,771-242,783,384 , GRCh38.p12 chr2: 12,771-241,841,232 CCDC142, 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 CCDC142, 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 CCDC142, 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 CCDC142, 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 CCDC142, ACTG2, 1713 more genes
    nsv3909450copy number variation1nstd102humanLikely pathogenic NCBI36 chr2: 74,456,414-75,598,154 , GRCh37 chr2: 74,602,906-75,744,646 , GRCh38 chr2: 74,375,779-75,517,520 CCDC142, AUP1, 39 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 CCDC142, 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 CCDC142, RTKN, 61 more genes
    nsv7096520copy number variation1nstd102humanUncertain significance GRCh37 chr2: 69,240,632-74,779,761 , GRCh38.p12 chr2: 69,013,500-74,552,634 CCDC142, LOC112268419, 140 more genes
    nsv3893335copy number variation1nstd102humanUncertain significance GRCh37 chr2: 74,659,196-75,408,753 , GRCh38 chr2: 74,432,069-75,181,627 , NCBI36 chr2: 74,512,704-75,262,261 CCDC142, TTC31, 30 more genes
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