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Items: 13

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    Number of Variants: 13

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv4452175copy number variation1nstd102humanUncertain significance GRCh37 chr1: 21,879,314-21,953,304 , GRCh38.p12 chr1: 21,552,821-21,626,811 RAP1GAP, LINC02596, 1 more genes
    nsv6137724copy number variation1nstd102humanPathogenic GRCh37 chr1: 16,785,250-23,491,592 , GRCh38.p12 chr1: 16,458,755-23,165,099 RAP1GAP, PADI1, 176 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 RAP1GAP, HTR6, 103 more genes
    nsv3877365copy number variation1nstd102humanPathogenic GRCh37 chr1: 47,851-249,228,449 , GRCh38.p12 chr1: 47,851-248,934,250 RAP1GAP, MARK1, 4930 more genes
    nsv3885206copy number variation1nstd102humanPathogenic GRCh37 chr1: 82,154-249,218,992 , GRCh38.p12 chr1: 82,154-248,924,793 RAP1GAP, SNAP47, 4927 more genes
    nsv3884414copy number variation2nstd102humanPathogenic GRCh37 chr1: 849,467-249,224,684 , GRCh38.p12 chr1: 914,087-248,930,485 RAP1GAP, RNU1-153P, 4887 more genes
    nsv3903895copy number variation1nstd102humanUncertain significance GRCh38 chr1: 21,399,130-22,696,747 , NCBI36 chr1: 21,598,210-22,895,827 , GRCh37 chr1: 21,725,623-23,023,240 RAP1GAP, PDE4DIPP10, 35 more genes
    nsv4436181copy number variation1nstd102humanUncertain significance GRCh37 chr1: 10,333,430-103,467,088 , GRCh38.p12 chr1: 10,273,372-103,001,532 RAP1GAP, LINC01776, 1853 more genes
    nsv7095949copy number variation1nstd102humanUncertain significance GRCh37 chr1: 19,199,339-24,690,861 , GRCh38.p12 chr1: 18,872,845-24,364,371 RAP1GAP, RPL29P6, 156 more genes
    nsv7095496copy number variation3nstd102humanUncertain significance GRCh37 chr1: 19,199,339-22,987,879 , GRCh38.p12 chr1: 18,872,845-22,661,386 RAP1GAP, RN7SL277P, 103 more genes
    nsv3904455copy number variation1nstd102humanUncertain significance GRCh37 chr1: 21,822,167-22,375,702 , GRCh38 chr1: 21,495,674-22,049,209 , NCBI36 chr1: 21,694,754-22,248,289 RAP1GAP, CELA3A, 14 more genes
    nsv4436680complex substitution1nstd102humanUncertain significance GRCh38.p12 chr1: 973,858-24,379,779 , GRCh37 chr1: 909,238-24,706,269 RAP1GAP, ALPL, 636 more genes
    nsv4436486complex substitution1nstd102humanUncertain significance GRCh38.p12 chr1: 17,229,013-24,379,779 , GRCh37 chr1: 17,555,508-24,706,269 RAP1GAP, ALPL, 174 more genes
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