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Items: 12

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    Number of Variants: 12

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv6315431copy number variation1nstd102humanPathogenic GRCh37 chr1: 24,531,639-24,749,706 , GRCh38.p12 chr1: 24,205,149-24,423,216 STPG1, LINC02800, 3 more genes
    nsv3877365copy number variation1nstd102humanPathogenic GRCh37 chr1: 47,851-249,228,449 , GRCh38.p12 chr1: 47,851-248,934,250 STPG1, MARK1, 4930 more genes
    nsv3885206copy number variation1nstd102humanPathogenic GRCh37 chr1: 82,154-249,218,992 , GRCh38.p12 chr1: 82,154-248,924,793 STPG1, SNAP47, 4927 more genes
    nsv3884414copy number variation2nstd102humanPathogenic GRCh37 chr1: 849,467-249,224,684 , GRCh38.p12 chr1: 914,087-248,930,485 STPG1, RNU1-153P, 4887 more genes
    nsv3901163copy number variation1nstd102humanPathogenic GRCh37 chr1: 24,707,696-41,886,350 , GRCh38 chr1: 24,381,206-41,401,517 , NCBI36 chr1: 24,580,283-41,658,937 STPG1, TMEM222, 453 more genes
    nsv4436181copy number variation1nstd102humanUncertain significance GRCh37 chr1: 10,333,430-103,467,088 , GRCh38.p12 chr1: 10,273,372-103,001,532 STPG1, 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 STPG1, RPL29P6, 156 more genes
    nsv4684226copy number variation1nstd102humanUncertain significance GRCh37 chr1: 24,394,811-25,148,686 , GRCh38.p12 chr1: 24,068,321-24,822,195 STPG1, GRHL3, 16 more genes
    nsv6636627copy number variation1nstd102humanUncertain significance GRCh37 chr1: 24,111,388-24,686,443 , GRCh38.p12 chr1: 23,784,898-24,359,953 STPG1, MYOM3-AS1, 23 more genes
    nsv6636637copy number variation1nstd102humanUncertain significance GRCh37 chr1: 24,363,507-24,875,537 , GRCh38.p12 chr1: 24,037,017-24,549,046 STPG1, LOC105376864, 13 more genes
    nsv4436680complex substitution1nstd102humanUncertain significance GRCh38.p12 chr1: 973,858-24,379,779 , GRCh37 chr1: 909,238-24,706,269 STPG1, ALPL, 636 more genes
    nsv4436486complex substitution1nstd102humanUncertain significance GRCh38.p12 chr1: 17,229,013-24,379,779 , GRCh37 chr1: 17,555,508-24,706,269 STPG1, ALPL, 174 more genes
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