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Items: 1 to 20 of 132

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5871518copy number variation1nstd209human GRCh38 chr1: 153,615,325-153,617,829 , GRCh37.p13 chr1: 153,587,801-153,590,305 S100A13, S100A14
    nsv5828358copy number variation1nstd209human GRCh38 chr1: 153,615,390-153,617,827 , GRCh37.p13 chr1: 153,587,866-153,590,303 S100A13, S100A14
    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
    nsv4903892copy number variation1nstd200human GRCh38 chr1: 153,612,297-153,627,613 , GRCh37.p13 chr1: 153,584,773-153,600,089 S100A14, S100A16, 2 more genes
    nsv4897462copy number variation1nstd200human GRCh38 chr1: 153,625,971-153,626,074 , GRCh37.p13 chr1: 153,598,447-153,598,550 S100A13
    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
    nsv4712639copy number variation1nstd195human GRCh37 chr1: 153,556,351-153,666,701 , GRCh38.p12 chr1: 153,583,875-153,694,225 ILF2, NPR1, 8 more genes
    nsv4673972copy number variation1nstd102humanUncertain significance GRCh37 chr1: 153,061,323-153,904,594 , GRCh38.p12 chr1: 153,088,847-153,932,118 S100A15A, LOC343052, 46 more genes
    nsv4535360insertion1nstd166human GRCh37.p13 chr1: 153,593,934-153,593,934 , GRCh38.p12 chr1: 153,621,458-153,621,458 S100A13
    nsv4451737copy number variation1nstd102humanUncertain significance GRCh37 chr1: 153,321,482-153,835,605 , GRCh38.p12 chr1: 153,349,006-153,863,129 S100A7, NPR1, 33 more genes
    nsv4056977copy number variation1nstd166human GRCh37.p13 chr1: 153,598,447-153,598,550 , GRCh38.p12 chr1: 153,625,971-153,626,074 S100A13
    nsv4052470copy number variation1nstd166human GRCh37.p13 chr1: 153,590,983-153,592,950 , GRCh38.p12 chr1: 153,618,507-153,620,474 S100A13
    nsv3954557insertion1nstd167human GRCh37 chr1: 153,607,075-153,607,075 , GRCh38.p12 chr1: 153,634,599-153,634,599 S100A13, CHTOP
    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
    nsv3889542copy number variation1nstd102humanBenign GRCh37 chr1: 153,488,723-153,750,339 , GRCh38.p12 chr1: 153,516,247-153,777,863 S100A1, S100A16, 18 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
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