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Items: 1 to 20 of 83

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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
    nsv4903948copy number variation1nstd200human GRCh38 chr1: 159,156,577-160,055,289 , GRCh37.p13 chr1: 159,126,367-160,025,079 , IGSF9, 40 more genes
    nsv4897699copy number variation1nstd200human GRCh38 chr1: 159,267,971-159,446,505 , GRCh37.p13 chr1: 159,237,761-159,416,295 FCER1A, OR10J1, 7 more genes
    nsv4784421copy number variation1nstd200human GRCh37 chr1: 159,237,761-159,416,295 , GRCh38.p12 chr1: 159,267,971-159,446,505 FCER1A, OR10J1, 7 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
    nsv4579508copy number variation1nstd183human GRCh37 chr1: 159,385,463-159,413,243 , GRCh38.p12 chr1: 159,415,673-159,443,453 OR10J1, OR10J4
    nsv4450412copy number variation1nstd102humanPathogenic GRCh37 chr1: 157,321,299-167,391,423 , GRCh38.p12 chr1: 157,351,509-167,422,186 FCGR3B, SLAMF9, 302 more genes
    nsv4385444copy number variation1nstd173human GRCh37 chr1: 158,214,469-159,706,408 , GRCh38.p12 chr1: 158,244,679-159,736,618 , RAD1P2, 60 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
    nsv4064879copy number variation1nstd166human GRCh37.p13 chr1: 159,400,399-159,409,190 , GRCh38.p12 chr1: 159,430,609-159,439,400 OR10J1, OR10J4
    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
    nsv3890224copy number variation1nstd102humanPathogenic GRCh38 chr1: 157,747,246-176,021,247 , GRCh37 chr1: 157,717,036-175,990,383 , NCBI36 chr1: 155,983,660-174,257,006 LOC101928596, KCNJ10, 475 more genes
    nsv3885206copy number variation1nstd102humanPathogenic GRCh37 chr1: 82,154-249,218,992 , GRCh38.p12 chr1: 82,154-248,924,793 , SNAP47, 4927 more genes
    nsv3884593copy number variation1nstd102humanPathogenic NCBI36 chr1: 157,610,062-160,185,096 , GRCh37.p13 chr1: 159,343,438-161,918,472 , GRCh38.p12 chr1: 159,373,648-161,948,682 OR10AE1P, USP21, 148 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
    nsv3877365copy number variation1nstd102humanPathogenic GRCh37 chr1: 47,851-249,228,449 , GRCh38.p12 chr1: 47,851-248,934,250 , MARK1, 4930 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
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