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Items: 13

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    Number of Variants: 13

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv3912840copy number variation1nstd102humanPathogenic NCBI36 chr1: 144,764,751-247,199,719 , GRCh37.p13 chr1: 146,053,394-249,233,096 , GRCh38.p12 chr1: 120,836,007-206,268,643 S100A1, CRB1, 1608 more genes
    nsv3877365copy number variation1nstd102humanPathogenic GRCh37 chr1: 47,851-249,228,449 , GRCh38.p12 chr1: 47,851-248,934,250 S100A1, MARK1, 4930 more genes
    nsv3885206copy number variation1nstd102humanPathogenic GRCh37 chr1: 82,154-249,218,992 , GRCh38.p12 chr1: 82,154-248,924,793 S100A1, SNAP47, 4927 more genes
    nsv3884414copy number variation2nstd102humanPathogenic GRCh37 chr1: 849,467-249,224,684 , GRCh38.p12 chr1: 914,087-248,930,485 S100A1, RNU1-153P, 4887 more genes
    nsv3918947copy number variation1nstd102humanPathogenic NCBI36 chr1: 144,475,856-247,199,719 , GRCh37.p13 chr1: 145,764,499-249,233,096 , GRCh38.p12 chr1: 120,836,007-206,268,643 S100A1, LOC101060227, 1608 more genes
    nsv3900459copy number variation1nstd102humanPathogenic GRCh38 chr1: 149,854,269-180,267,197 , NCBI36 chr1: 148,092,455-178,502,955 , GRCh37 chr1: 149,825,831-180,236,332 S100A1, HORMAD1, 923 more genes
    nsv3877540copy number variation1nstd102humanPathogenic GRCh37 chr1: 150,853,044-154,647,786 , GRCh38.p12 chr1: 150,880,568-154,675,310 S100A1, LCE1F, 197 more genes
    nsv3889542copy number variation1nstd102humanBenign GRCh37 chr1: 153,488,723-153,750,339 , GRCh38.p12 chr1: 153,516,247-153,777,863 S100A1, S100A16, 18 more genes
    nsv5381285copy number variation2nstd102humanUncertain significance GRCh37 chr1: 130,980,840-248,900,000 , GRCh38.p12 chr1: 120,324,463-248,736,699 S100A1, DCST1, 2428 more genes
    nsv6310678copy number variation4nstd102humanUncertain significance GRCh37 chr1: 149,895,434-156,851,434 , GRCh38.p12 chr1: 149,923,542-156,881,642 S100A1, PRPF3, 352 more genes
    nsv4673972copy number variation1nstd102humanUncertain significance GRCh37 chr1: 153,061,323-153,904,594 , GRCh38.p12 chr1: 153,088,847-153,932,118 S100A1, S100A15A, 46 more genes
    nsv4451737copy number variation1nstd102humanUncertain significance GRCh37 chr1: 153,321,482-153,835,605 , GRCh38.p12 chr1: 153,349,006-153,863,129 S100A1, S100A7, 33 more genes
    nsv1398455copy number variation1nstd102humanUncertain significance GRCh37 chr1: 153,412,418-153,604,246 , GRCh38.p12 chr1: 153,439,942-153,631,770 S100A1, S100A16, 11 more genes
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