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Items: 1 to 20 of 110

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5431212copy number variation1nstd206human GRCh38 chr1: 153,778,376-153,778,509 , GRCh37.p13 chr1: 153,750,852-153,750,985 SLC27A3
    nsv5430370copy number variation1nstd206human GRCh38 chr1: 153,775,835-153,776,752 , GRCh37.p13 chr1: 153,748,311-153,749,228 SLC27A3
    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
    nsv4781205copy number variation1nstd200human GRCh37 chr1: 153,753,006-153,753,120 , GRCh38.p12 chr1: 153,780,530-153,780,644 , GRCh38.p12 chr1|NW_003315905.1: 97,231-97,345 SLC27A3
    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
    nsv4713130copy number variation1nstd195human GRCh37 chr1: 153,687,051-153,976,501 , GRCh38.p12 chr1: 153,714,575-154,004,025 , GRCh38.p12 chr1|NW_003315905.1: 31,265-182,439 GATAD2B, CREB3L4, 15 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
    nsv4673922copy number variation1nstd102humanUncertain significance GRCh37 chr1: 153,659,094-154,307,972 , GRCh38.p12 chr1: 153,686,618-154,335,496 GATAD2B, MIR8083, 33 more genes
    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
    nsv4346764copy number variation1nstd102humanPathogenic GRCh37 chr1: 153,701,504-154,218,584 , GRCh38.p12 chr1: 153,729,028-154,246,108 GATAD2B, MIR190B, 23 more genes
    nsv4061728copy number variation1nstd166human GRCh37.p13 chr1: 153,752,536-153,753,134 , GRCh38.p12 chr1: 153,780,060-153,780,658 , GRCh38.p12 chr1|NW_003315905.1: 96,761-97,359 SLC27A3
    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
    nsv3903470copy number variation1nstd102humanPathogenic GRCh38 chr1: 153,759,563-154,219,803 , NCBI36 chr1: 151,998,663-152,458,903 , GRCh37 chr1: 153,732,039-154,192,279 RN7SL431P, SLC27A3, 23 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
    nsv3894887copy number variation1nstd102humanUncertain significance NCBI36 chr1: 151,991,431-152,136,629 , GRCh37 chr1: 153,724,807-153,870,005 , GRCh38 chr1: 153,752,331-153,897,529 INTS3, SLC27A3, 3 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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