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Items: 11

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    Number of Variants: 11

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv3912242copy number variation1nstd102humanPathogenic GRCh37 chr19: 9,846,119-11,338,677 , GRCh38 chr19: 9,735,443-11,228,001 , NCBI36 chr19: 9,707,119-11,199,677 COL5A3, PPAN, 68 more genes
    nsv3904885copy number variation1nstd102humanPathogenic GRCh37 chr19: 68,029-59,110,290 , GRCh38.p12 chr19: 68,029-58,598,923 COL5A3, ZNF321P, 2443 more genes
    nsv3903203copy number variation1nstd102humanPathogenic GRCh37 chr19: 260,912-59,097,160 , GRCh38.p12 chr19: 260,912-58,585,793 COL5A3, BABAM1, 2426 more genes
    nsv3903092copy number variation2nstd102humanPathogenic GRCh37 chr19: 260,912-58,956,888 , GRCh38.p12 chr19: 260,912-58,445,521 COL5A3, LENG8, 2408 more genes
    nsv3898900copy number variation1nstd102humanPathogenic GRCh37 chr19: 9,678,768-14,853,426 , GRCh38.p12 chr19: 9,568,092-14,742,614 COL5A3, FBXL12, 253 more genes
    nsv3920616copy number variation1nstd102humanLikely pathogenic NCBI36 chr19: 8,802,823-13,303,041 , GRCh37 chr19: 8,941,823-13,442,041 , GRCh38 chr19: 8,831,147-13,331,227 COL5A3, ACP5, 236 more genes
    nsv3888397copy number variation1nstd102humanLikely pathogenic GRCh38 chr19: 7,981,357-10,019,383 , GRCh37.p13 chr19: 8,046,241-10,130,059 COL5A3, ELAVL1, 80 more genes
    nsv1398241copy number variation1nstd102humanUncertain significance GRCh37 chr19: 8,661,944-10,104,083 , GRCh38.p12 chr19: 8,597,060-9,993,407 COL5A3, MUC16, 58 more genes
    nsv3923449copy number variation1nstd102humanUncertain significance NCBI36 chr19: 9,956,287-10,064,514 , GRCh37.p13 chr19: 10,095,287-10,203,514 , GRCh38.p12 chr19: 9,984,611-10,092,838 COL5A3, ANGPTL6, 4 more genes
    nsv6291543copy number variation1nstd102humanUncertain significance GRCh37 chr19: 9,941,033-11,739,567 , GRCh38.p12 chr19: 9,830,357-11,628,752 COL5A3, KRI1, 88 more genes
    nsv4436244complex substitution1nstd102humanUncertain significance GRCh38.p12 chr19: 8,891,157-9,974,378 , GRCh37 chr19: 9,001,833-10,085,054 COL5A3, PIN1, 51 more genes
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