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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    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
    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
    nsv4703456copy number variation1nstd195human GRCh38.p12 chr1: 152,773,625-152,830,475 , GRCh37 chr1: 152,746,101-152,802,951 LCE1A, LCE1B, 4 more genes
    nsv4593964copy number variation1nstd183human GRCh37 chr1: 152,771,326-152,799,874 , GRCh38.p12 chr1: 152,798,850-152,827,398 LCE1C, LCE1A, 1 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
    nsv4064437copy number variation1nstd166human GRCh37.p13 chr1: 152,772,000-152,865,000 , GRCh38.p12 chr1: 152,799,524-152,892,524 SMCP, LCE1A, 5 more genes
    nsv4062739copy number variation1nstd166human GRCh37.p13 chr1: 152,760,000-152,800,000 , GRCh38.p12 chr1: 152,787,524-152,827,524 LCE1A, LCE1D, 3 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
    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
    nsv3877365copy number variation1nstd102humanPathogenic GRCh37 chr1: 47,851-249,228,449 , GRCh38.p12 chr1: 47,851-248,934,250 , MARK1, 4930 more genes
    nsv3248807inversion2nstd152human GRCh38 chr1: 152,805,489-152,827,459 , GRCh37.p13 chr1: 152,777,965-152,799,935 LCE1A, LCE1B, 1 more genes
    nsv3168056copy number variation1nstd158human GRCh38.p12 chr1: 84,243,714-179,997,709 , GRCh37 chr1: 84,709,397-179,966,844 , ABCA4, 1909 more genes
    nsv3167791inversion1nstd158human GRCh37 chr1: 42,414,066-227,813,903 , GRCh38.p12 chr1: 41,948,395-227,626,202 , ABCA4, 3418 more genes
    nsv3131000copy number variation1nstd151human GRCh37 chr1: 152,770,268-153,617,750 , GRCh38.p12 chr1: 152,797,792-153,645,274 S100A4, SPRR2B, 50 more genes
    nsv3126473copy number variation1nstd151human GRCh37 chr1: 152,659,317-152,800,286 , GRCh38.p12 chr1: 152,686,841-152,827,810 LCE2A, LCE1C, 11 more genes
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