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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv4684075copy number variation2nstd102humanPathogenic GRCh37 chr20: 18,492,869-18,496,380 , GRCh38.p12 chr20: 18,512,225-18,515,736 SEC23B
    nsv4450466copy number variation1nstd102humanPathogenic GRCh38 chr20: 18,512,225-18,515,736 , GRCh37 chr20: 18,492,869-18,496,380 SEC23B
    nsv7095547copy number variation1nstd102humanUncertain significance GRCh37 chr20: 18,516,277-18,516,406 , GRCh38.p12 chr20: 18,535,633-18,535,762 SEC23B
    nsv4676419copy number variation1nstd102humanPathogenic GRCh37 chr20: 8,571,696-22,088,650 , GRCh38.p12 chr20: 8,591,049-22,108,012 PGAM3P, EEF1A1P34, 182 more genes
    nsv3891787copy number variation1nstd102humanPathogenic GRCh37 chr20: 18,500,917-25,847,320 , GRCh38.p12 chr20: 18,520,273-25,866,684 CST3, CST8, 146 more genes
    nsv6137724copy number variation1nstd102humanPathogenic GRCh37 chr1: 16,785,250-23,491,592 , GRCh38.p12 chr1: 16,458,755-23,165,099 CDA, PADI1, 176 more genes
    nsv3899287copy number variation1nstd102humanPathogenic GRCh37 chr1: 15,711,763-21,306,842 , NCBI36 chr1: 15,584,350-21,179,429 , GRCh38 chr1: 15,385,267-20,980,349 CDA, EMC1-AS1, 166 more genes
    nsv4728309copy number variation1nstd102humanPathogenic GRCh37 chr1: 16,041,431-21,295,864 , GRCh38.p12 chr1: 15,714,936-20,969,371 CDA, RNU1-6P, 150 more genes
    nsv4728344copy number variation1nstd102humanPathogenic GRCh37 chr1: 17,284,906-21,778,495 , GRCh38.p12 chr1: 16,958,411-21,452,002 CDA, NBL1, 98 more genes
    nsv3890174copy number variation1nstd102humanPathogenic GRCh37 chr1: 18,674,315-22,839,387 , NCBI36 chr1: 18,546,902-22,711,974 , GRCh38 chr1: 18,347,821-22,512,894 CDA, HTR6, 103 more genes
    nsv3914224copy number variation1nstd102humanPathogenic GRCh37 chr20: 17,753,416-21,407,427 , NCBI36 chr20: 17,701,416-21,355,427 , GRCh38 chr20: 17,772,771-21,426,789 LOC107985440, RN7SL690P, 73 more genes
    nsv3907378copy number variation1nstd102humanPathogenic GRCh38 chr1: 20,482,657-21,271,999 , NCBI36 chr1: 20,681,737-21,471,079 , GRCh37 chr1: 20,809,150-21,598,492 CDA, RPS4XP4, 18 more genes
    nsv3877365copy number variation1nstd102humanPathogenic GRCh37 chr1: 47,851-249,228,449 , GRCh38.p12 chr1: 47,851-248,934,250 CDA, MARK1, 4930 more genes
    nsv3885206copy number variation1nstd102humanPathogenic GRCh37 chr1: 82,154-249,218,992 , GRCh38.p12 chr1: 82,154-248,924,793 CDA, SNAP47, 4927 more genes
    nsv3884414copy number variation2nstd102humanPathogenic GRCh37 chr1: 849,467-249,224,684 , GRCh38.p12 chr1: 914,087-248,930,485 CDA, RNU1-153P, 4887 more genes
    nsv3892750copy number variation1nstd102humanPathogenic GRCh37 chr20: 63,244-62,961,294 , GRCh38.p12 chr20: 82,603-64,329,941 TGIF2-RAB5IF, LOC105372609, 1314 more genes
    nsv3905072copy number variation1nstd102humanPathogenic GRCh37 chr20: 63,244-62,948,788 , GRCh38.p12 chr20: 82,603-64,317,435 LRRN4, SNRPB, 1313 more genes
    nsv3895314copy number variation2nstd102humanPathogenic GRCh37 chr20: 61,569-62,915,555 , GRCh38.p12 chr20: 80,928-64,284,202 PKIG, LINC01523, 1311 more genes
    nsv3896520copy number variation1nstd102humanPathogenic GRCh37 chr20: 63,244-62,912,463 , GRCh38.p12 chr20: 82,603-64,281,110 COMMD7, RNU7-6P, 1311 more genes
    nsv3920218copy number variation1nstd102humanPathogenic GRCh37 chr20: 80,198-62,908,674 , GRCh38 chr20: 99,557-64,277,321 , NCBI36 chr20: 28,198-62,379,118 MIR3646, NPEPL1, 1310 more genes
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