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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
    nsv5211686copy number variation1nstd204human GRCh38.p13 chr1: 153,974,901-155,189,600 , GRCh37.p13 chr1: 153,947,377-155,161,231 JTB, PYGO2-AS1, 56 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
    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
    nsv3917016copy number variation1nstd102humanPathogenic NCBI36 chr1: 152,220,775-155,340,341 , GRCh37.p13 chr1: 153,954,151-157,073,717 , GRCh38.p12 chr1: 153,981,675-157,103,925 SMU1P1, LOC100419798, 152 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
    nsv3909898inversion1nstd102humanLikely pathogenic GRCh38.p12 chr1: 154,158,509-156,874,085 , GRCh37 chr1: 154,130,985-156,843,877 ADAR, BGLAP, 136 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
    nsv3870644copy number variation1nstd102humanLikely pathogenic GRCh37 chr1: 153,751,465-156,660,462 , GRCh38.p12 chr1: 153,778,989-156,690,670 ADAR, BGLAP, 145 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
    nsv3134393copy number variation1nstd151human GRCh37 chr1: 154,522,911-154,524,664 , GRCh38.p12 chr1: 154,550,435-154,552,188 UBE2Q1, UBE2Q1-AS1
    nsv3133400copy number variation1nstd151human GRCh37 chr1: 154,522,911-154,524,945 , GRCh38.p12 chr1: 154,550,435-154,552,469 UBE2Q1-AS1, UBE2Q1
    nsv3122507copy number variation1nstd151human GRCh37 chr1: 154,522,911-154,527,266 , GRCh38.p12 chr1: 154,550,435-154,554,790 UBE2Q1, UBE2Q1-AS1
    nsv1502030short tandem repeat2nstd128human GRCh37 chr1: 154,524,458-154,524,471 , GRCh38.p12 chr1: 154,551,982-154,551,995 UBE2Q1, UBE2Q1-AS1
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