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Items: 16

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    Number of Variants: 16

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv6310872copy number variation1nstd102humanUncertain significance GRCh37 chr1: 41,474,523-41,510,926 , GRCh38.p12 chr1: 41,008,851-41,045,254 SCMH1, SLFNL1-AS1, 2 more genes
    nsv3893621copy number variation1nstd102humanPathogenic GRCh38 chr1: 38,108,665-42,327,551 , NCBI36 chr1: 38,346,924-42,565,809 , GRCh37 chr1: 38,574,337-42,793,222 SCMH1, NT5C1A, 98 more genes
    nsv3892747copy number variation1nstd102humanPathogenic NCBI36 chr1: 40,700,674-44,906,299 , GRCh37 chr1: 40,928,087-45,133,712 , GRCh38 chr1: 40,462,415-44,668,040 SCMH1, ERMAP, 116 more genes
    nsv3900473copy number variation1nstd102humanPathogenic GRCh38 chr1: 40,693,289-44,514,104 , GRCh37 chr1: 41,158,961-44,979,776 , NCBI36 chr1: 40,931,548-44,752,363 SCMH1, KDM4A, 102 more genes
    nsv3908884copy number variation1nstd102humanPathogenic GRCh37 chr1: 41,300,076-43,588,742 , GRCh38 chr1: 40,834,404-43,123,071 , NCBI36 chr1: 41,072,663-43,361,329 SCMH1, PPCS, 46 more genes
    nsv3877365copy number variation1nstd102humanPathogenic GRCh37 chr1: 47,851-249,228,449 , GRCh38.p12 chr1: 47,851-248,934,250 SCMH1, MARK1, 4930 more genes
    nsv3885206copy number variation1nstd102humanPathogenic GRCh37 chr1: 82,154-249,218,992 , GRCh38.p12 chr1: 82,154-248,924,793 SCMH1, SNAP47, 4927 more genes
    nsv3884414copy number variation2nstd102humanPathogenic GRCh37 chr1: 849,467-249,224,684 , GRCh38.p12 chr1: 914,087-248,930,485 SCMH1, 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 SCMH1, TMEM222, 453 more genes
    nsv6313688copy number variation1nstd102humanPathogenic GRCh37 chr1: 33,285,582-47,891,811 , GRCh38.p12 chr1: 32,819,981-47,426,139 SCMH1, LOC107984940, 407 more genes
    nsv6313549copy number variation1nstd102humanLikely pathogenic GRCh37 chr1: 38,679,545-42,556,292 , GRCh38.p12 chr1: 38,213,873-42,090,621 SCMH1, BMP8B, 93 more genes
    nsv3885080copy number variation1nstd102humanLikely pathogenic GRCh37 chr1: 41,343,608-43,121,507 , GRCh38.p12 chr1: 40,877,936-42,655,836 SCMH1, CTPS1, 26 more genes
    nsv3876987copy number variation1nstd102humanUncertain significance GRCh37 chr1: 40,944,820-42,213,560 , GRCh38.p12 chr1: 40,479,148-41,747,889 SCMH1, CITED4, 30 more genes
    nsv4436181copy number variation1nstd102humanUncertain significance GRCh37 chr1: 10,333,430-103,467,088 , GRCh38.p12 chr1: 10,273,372-103,001,532 SCMH1, LINC01776, 1853 more genes
    nsv3878135copy number variation1nstd102humanUncertain significance GRCh37 chr1: 33,241,563-46,663,513 , GRCh38.p12 chr1: 32,775,962-46,197,841 SCMH1, LINC02786, 365 more genes
    nsv3886014copy number variation1nstd102humanUncertain significance GRCh37 chr1: 41,086,977-41,670,357 , GRCh38.p12 chr1: 40,621,305-41,204,685 SCMH1, SLFNL1, 15 more genes
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