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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv3886530copy number variation1nstd102humanPathogenic GRCh37 chr8: 53,536,328-53,598,019 , GRCh38 chr8: 52,623,768-52,685,459 RB1CC1
    nsv3878401copy number variation1nstd102humanPathogenic GRCh38 chr8: 52,624,761-52,661,660 , GRCh37 chr8: 53,537,321-53,574,220 RB1CC1
    nsv3883128copy number variation1nstd102humanPathogenic GRCh38 chr22: 29,668,447-29,681,601 , GRCh37.p13 chr22: 30,064,436-30,077,590 NF2
    nsv5980401copy number variation1nstd102humanPathogenic GRCh38 chr17: 7,669,588-7,676,613 , GRCh37 chr17: 7,572,906-7,579,931 TP53
    nsv5673186copy number variation1nstd102humanPathogenic GRCh37 chr22: 30,057,715-30,063,336 , GRCh38 chr22: 29,661,726-29,667,347 NF2
    nsv3874490copy number variation1nstd102humanPathogenic GRCh38 chr22: 29,667,356-29,671,801 , GRCh37 chr22: 30,063,345-30,067,790 NF2
    nsv4578408copy number variation1nstd102humanPathogenic GRCh37 chr17: 29,553,925-29,556,824 , GRCh38 chr17: 31,226,905-31,229,804 NF1
    nsv4578365copy number variation1nstd102humanPathogenic GRCh38 chr17: 31,224,741-31,226,926 , GRCh37 chr17: 29,551,763-29,553,948 NF1
    nsv4684143copy number variation1nstd102humanPathogenic GRCh38 chr12: 51,991,357-51,992,013 , GRCh37 chr12: 52,385,141-52,385,797 ACVR1B
    nsv6634619copy number variation3nstd102humanPathogenic GRCh38 chr3: 195,788,127-195,788,270 , GRCh37 chr3: 195,514,998-195,515,141 MUC4
    nsv6634519copy number variation1nstd102humanPathogenic GRCh37 chr3: 195,508,647-195,508,790 , GRCh38 chr3: 195,781,776-195,781,919 MUC4
    nsv6634628copy number variation3nstd102humanPathogenic GRCh37 chr3: 195,511,448-195,511,590 , GRCh38 chr3: 195,784,577-195,784,719 MUC4
    nsv6636189copy number variation1nstd102humanPathogenic GRCh37 chr11: 1,017,464-1,017,602 , GRCh38 chr11: 1,017,464-1,017,602 MUC6
    nsv6636149copy number variation1nstd102humanPathogenic GRCh38 chr11: 1,017,470-1,017,605 , GRCh37 chr11: 1,017,470-1,017,605 MUC6
    nsv4578561copy number variation1nstd102humanPathogenic GRCh37 chr13: 32,950,805-32,950,926 , GRCh38 chr13: 32,376,668-32,376,789 BRCA2
    nsv6635992copy number variation1nstd102humanPathogenic GRCh37 chr3: 195,514,991-195,515,086 , GRCh38 chr3: 195,788,120-195,788,215 MUC4
    nsv6634666copy number variation1nstd102humanPathogenic GRCh37 chr3: 195,508,442-195,508,537 , GRCh38 chr3: 195,781,571-195,781,666 MUC4
    nsv6634592copy number variation3nstd102humanPathogenic GRCh37 chr3: 195,509,420-195,509,515 , GRCh38 chr3: 195,782,549-195,782,644 MUC4
    nsv6634572copy number variation2nstd102humanPathogenic GRCh37 chr3: 195,508,479-195,508,574 , GRCh38 chr3: 195,781,608-195,781,703 MUC4
    nsv6634537copy number variation1nstd102humanPathogenic GRCh37 chr11: 640,004-640,099 , GRCh38 chr11: 640,004-640,099 DRD4
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