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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5416288copy number variation1nstd206human GRCh38 chr1: 153,262,120-153,262,334 , GRCh37.p13 chr1: 153,234,596-153,234,810 LORICRIN
    nsv5381285copy number variation2nstd102humanUncertain significance GRCh37 chr1: 130,980,840-248,900,000 , GRCh38.p12 chr1: 120,324,463-248,736,699 , DCST1, 2428 more genes
    nsv5298213copy number variation1nstd204human GRCh38.p13 chr1: 153,261,012-153,261,115 , GRCh37.p13 chr1: 153,233,488-153,233,591 LORICRIN
    nsv4897446copy number variation1nstd200human GRCh38 chr1: 153,261,021-153,261,107 , GRCh37.p13 chr1: 153,233,497-153,233,583 LORICRIN
    nsv4767860inversion1nstd199human GRCh37 chr1: 17,051,740-234,912,187 , GRCh38.p12 chr1: 16,725,245-234,776,440 , ABCA4, 4269 more genes
    nsv4751400inversion1nstd199human GRCh37 chr1: 17,125,657-234,919,132 , GRCh38.p12 chr1: 16,799,162-234,783,385 , ABCA4, 4264 more genes
    nsv4728602copy number variation1nstd102humanUncertain significance GRCh37 chr1: 153,007,105-153,463,223 , GRCh38.p12 chr1: 153,034,629-153,490,747 S100A8, S100A7P1, 23 more genes
    nsv4712035copy number variation1nstd195human GRCh37 chr1: 153,216,551-153,250,951 , GRCh38.p12 chr1: 153,244,075-153,278,475 LORICRIN
    nsv4702909copy number variation1nstd195human GRCh37 chr1: 153,233,613-153,233,614 , GRCh38.p12 chr1: 153,261,137-153,261,138 LORICRIN
    nsv4673972copy number variation1nstd102humanUncertain significance GRCh37 chr1: 153,061,323-153,904,594 , GRCh38.p12 chr1: 153,088,847-153,932,118 S100A15A, LOC343052, 46 more genes
    nsv4518402copy number variation1nstd166human GRCh37.p13 chr1: 152,648,171-153,289,950 , GRCh38.p12 chr1: 152,675,695-153,317,474 SPRR2D, SMCP, 36 more genes
    nsv4060951copy number variation1nstd166human GRCh37.p13 chr1: 153,135,951-153,331,463 , GRCh38.p12 chr1: 153,163,475-153,358,987 PGLYRP4, PGLYRP3, 8 more genes
    nsv3961477copy number variation1nstd168human GRCh38 chr1: 153,109,100-153,268,701 , GRCh37.p13 chr1: 153,081,576-153,241,177 LORICRIN, SPRR2C, 6 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 , LOC101060227, 1608 more genes
    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 , CRB1, 1608 more genes
    nsv3902729copy number variation1nstd102humanUncertain significance NCBI36 chr1: 151,190,269-151,734,755 , GRCh37 chr1: 152,923,645-153,468,131 , GRCh38 chr1: 152,951,169-153,495,655 SPRR3, SPRR2E, 28 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 HORMAD1, BCAN-AS1, 923 more genes
    nsv3885206copy number variation1nstd102humanPathogenic GRCh37 chr1: 82,154-249,218,992 , GRCh38.p12 chr1: 82,154-248,924,793 , SNAP47, 4927 more genes
    nsv3884414copy number variation2nstd102humanPathogenic GRCh37 chr1: 849,467-249,224,684 , GRCh38.p12 chr1: 914,087-248,930,485 , RNU1-153P, 4887 more genes
    nsv3877540copy number variation1nstd102humanPathogenic GRCh37 chr1: 150,853,044-154,647,786 , GRCh38.p12 chr1: 150,880,568-154,675,310 LCE1F, SPRR2G, 197 more genes
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