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Items: 1 to 20 of 111

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5718578mobile element insertion1nstd211human GRCh38 chr1: 156,752,879-156,752,879 , GRCh37.p13 chr1: 156,722,671-156,722,671 HDGF
    nsv5561314mobile element insertion1nstd206human GRCh38 chr1: 156,752,879-156,752,930 , GRCh37.p13 chr1: 156,722,671-156,722,722 HDGF
    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
    nsv4327204inversion1nstd166human GRCh37.p13 chr1: 156,223,026-186,411,081 , GRCh38.p12 chr1: 156,253,235-186,441,949 , FASLG, 707 more genes
    nsv4065464copy number variation1nstd166human GRCh37.p13 chr1: 156,713,249-156,713,443 , GRCh38.p12 chr1: 156,743,457-156,743,651 HDGF
    nsv4061286copy number variation1nstd166human GRCh37.p13 chr1: 156,672,219-156,717,044 , GRCh38.p12 chr1: 156,702,427-156,747,252 METTL25B, CRABP2, 3 more genes
    nsv4056554copy number variation1nstd166human GRCh37.p13 chr1: 156,714,143-156,714,799 , GRCh38.p12 chr1: 156,744,351-156,745,007 HDGF
    nsv3968579copy number variation1nstd168human GRCh38 chr1: 156,750,191-156,812,528 , GRCh37.p13 chr1: 156,719,983-156,782,320 SH2D2A, PRCC, 1 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
    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
    nsv3882925copy number variation1nstd102humanPathogenic GRCh37 chr1: 155,636,337-158,024,499 , GRCh38.p12 chr1: 155,666,546-158,054,709 SH2D2A, LRRC71, 88 more genes
    nsv3877365copy number variation1nstd102humanPathogenic GRCh37 chr1: 47,851-249,228,449 , GRCh38.p12 chr1: 47,851-248,934,250 , MARK1, 4930 more genes
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