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Items: 1 to 20 of 137

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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
    nsv5353904translocation1nstd200human GRCh38 chr1: 159,474,613-159,474,613 , GRCh38 chr1: 159,474,710-159,474,710 , GRCh37.p13 chr1: 159,444,500-159,444,500 , GRCh37.p13 chr1: 159,444,403-159,444,403 LINC02819
    nsv5063705mobile element insertion1nstd203human GRCh38 chr1: 159,474,338-159,474,356 , GRCh37.p13 chr1: 159,444,128-159,444,146 LINC02819
    nsv4903948copy number variation1nstd200human GRCh38 chr1: 159,156,577-160,055,289 , GRCh37.p13 chr1: 159,126,367-160,025,079 , IGSF9, 40 more genes
    nsv4897705copy number variation1nstd200human GRCh38 chr1: 159,491,002-159,491,088 , GRCh37.p13 chr1: 159,460,792-159,460,878 LINC02819
    nsv4784423copy number variation1nstd200human GRCh37 chr1: 159,460,792-159,460,878 , GRCh38.p12 chr1: 159,491,002-159,491,088 LINC02819
    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
    nsv4458971mobile element insertion1nstd166human GRCh37.p13 chr1: 159,443,786-159,443,786 , GRCh38.p12 chr1: 159,473,996-159,473,996 LINC02819
    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
    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
    nsv3906717copy number variation1nstd102humanPathogenic GRCh38 chr1: 159,479,887-166,895,086 , GRCh37 chr1: 159,449,677-166,864,323 , NCBI36 chr1: 157,716,301-165,130,947 NOS1AP, LY9, 220 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
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