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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5433455copy number variation1nstd206human GRCh38 chr1: 156,281,269-156,281,376 , GRCh37.p13 chr1: 156,251,060-156,251,167 TMEM79, SMG5
    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
    nsv5209284copy number variation1nstd204human GRCh38.p13 chr1: 156,136,401-156,327,400 , GRCh37.p13 chr1: 156,106,192-156,297,191 PAQR6, SEMA4A, 10 more genes
    nsv4903927copy number variation1nstd200human GRCh38 chr1: 156,291,691-156,308,597 , GRCh37.p13 chr1: 156,261,482-156,278,388 SMG5, VHLL, 3 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
    nsv4593982copy number variation1nstd183human GRCh37 chr1: 156,252,628-156,252,818 , GRCh38.p12 chr1: 156,282,837-156,283,027 SMG5, TMEM79
    nsv4452451copy number variation1nstd102humanUncertain significance GRCh37 chr1: 156,037,369-156,463,980 , GRCh38.p12 chr1: 156,067,578-156,494,188 MIR9-1HG, TSACC, 17 more genes
    nsv4452342copy number variation1nstd102humanUncertain significance GRCh37 chr1: 155,770,505-156,652,136 , GRCh38.p12 chr1: 155,800,714-156,682,344 NES, SNORA80E, 43 more genes
    nsv4327204inversion1nstd166human GRCh37.p13 chr1: 156,223,026-186,411,081 , GRCh38.p12 chr1: 156,253,235-186,441,949 , FASLG, 707 more genes
    nsv4062315copy number variation1nstd166human GRCh37.p13 chr1: 156,261,482-156,278,388 , GRCh38.p12 chr1: 156,291,691-156,308,597 TMEM79, CCT3, 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
    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
    nsv3906950copy number variation1nstd102humanPathogenic GRCh38 chr1: 154,566,501-157,624,084 , NCBI36 chr1: 152,805,601-155,860,498 , GRCh37 chr1: 154,538,977-157,593,874 ARHGEF2-AS2, INSRR, 131 more genes
    nsv3901305copy number variation1nstd102humanUncertain significance GRCh38 chr1: 155,834,419-156,434,205 , GRCh37 chr1: 155,804,210-156,403,997 , NCBI36 chr1: 154,070,834-154,670,621 RHBG, LOC100132108, 33 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
    nsv3891439copy number variation1nstd102humanLikely pathogenic NCBI36 chr1: 154,492,910-154,918,279 , GRCh37 chr1: 156,226,286-156,651,655 , GRCh38 chr1: 156,256,495-156,681,863 MEF2D, CCT3, 17 more genes
    nsv3885206copy number variation1nstd102humanPathogenic GRCh37 chr1: 82,154-249,218,992 , GRCh38.p12 chr1: 82,154-248,924,793 , SNAP47, 4927 more genes
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