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Items: 1 to 20 of 108

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5422501copy number variation1nstd206human GRCh38 chr1: 153,976,070-153,981,136 , GRCh37.p13 chr1: 153,948,546-153,953,612 RAB13, JTB
    nsv5414032copy number variation1nstd206human GRCh38 chr1: 153,975,905-153,976,692 , GRCh37.p13 chr1: 153,948,381-153,949,168 JTB
    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
    nsv5211686copy number variation1nstd204human GRCh38.p13 chr1: 153,974,901-155,189,600 , GRCh37.p13 chr1: 153,947,377-155,161,231 JTB, PYGO2-AS1, 56 more genes
    nsv4903898copy number variation1nstd200human GRCh38 chr1: 153,891,283-154,169,965 , GRCh37.p13 chr1: 153,863,759-154,142,441 DENND4B, RN7SL431P, 15 more genes
    nsv4781207copy number variation1nstd200human GRCh37 chr1: 153,863,759-154,142,441 , GRCh38.p12 chr1: 153,891,283-154,169,965 MIR6737, SLC39A1, 15 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
    nsv4728332copy number variation1nstd102humanUncertain significance GRCh37 chr1: 153,866,956-154,000,766 , GRCh38.p12 chr1: 153,894,480-154,028,290 DENND4B, JTB, 10 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
    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
    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
    nsv3963643copy number variation1nstd168human GRCh38 chr1: 153,967,838-154,012,278 , GRCh37.p13 chr1: 153,940,314-153,984,754 RAB13, RPS27, 5 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
    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
    nsv3903237copy number variation1nstd102humanPathogenic NCBI36 chr1: 152,178,671-152,217,376 , GRCh37 chr1: 153,912,047-153,950,752 , GRCh38 chr1: 153,939,571-153,978,276 DENND4B, JTB, 4 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
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