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Items: 1 to 20 of 151

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5877760copy number variation1nstd209human GRCh38 chr1: 212,435,362-212,435,568 , GRCh37.p13 chr1: 212,608,704-212,608,910 NENF
    nsv5868922copy number variation1nstd209human GRCh38 chr1: 212,435,160-212,435,223 , GRCh37.p13 chr1: 212,608,502-212,608,565 NENF
    nsv5543273insertion1nstd206human GRCh38 chr1: 212,438,540-212,438,545 , GRCh37.p13 chr1: 212,611,882-212,611,887 NENF
    nsv5446433copy number variation1nstd206human GRCh38 chr1: 212,435,161-212,435,224 , GRCh37.p13 chr1: 212,608,503-212,608,566 NENF
    nsv5443780copy number variation1nstd206human GRCh38 chr1: 212,439,048-212,440,550 , GRCh37.p13 chr1: 212,612,390-212,613,892 NENF
    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
    nsv4904320copy number variation1nstd200human GRCh38 chr1: 212,054,678-212,485,434 , GRCh37.p13 chr1: 212,228,020-212,658,776 , NENF, 10 more genes
    nsv4781425copy number variation1nstd200human GRCh37 chr1: 212,228,020-212,658,776 , GRCh38.p12 chr1: 212,054,678-212,485,434 , PACC1, 10 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
    nsv4684187copy number variation1nstd102humanPathogenic GRCh37 chr1: 210,152,794-249,218,992 , GRCh38.p12 chr1: 209,979,449-248,924,793 HLX-AS1, OPN3, 740 more genes
    nsv4674140copy number variation1nstd102humanPathogenic GRCh37 chr1: 204,045,948-249,218,992 , GRCh38.p12 chr1: 204,076,820-248,924,793 RNA5S8, NTPCR, 893 more genes
    nsv4516715copy number variation1nstd166human GRCh37.p13 chr1: 207,930,080-214,726,645 , GRCh38.p12 chr1: 207,756,735-214,553,302 , UTP25, 121 more genes
    nsv4452160copy number variation1nstd102humanUncertain significance GRCh37 chr1: 206,329,070-213,263,817 , GRCh38.p12 chr1: 206,308,879-213,090,475 CDCA4P4, LOC105372889, 146 more genes
    nsv4450583copy number variation1nstd102humanPathogenic GRCh37 chr1: 182,388,773-249,111,240 , GRCh38.p12 chr1: 182,419,638-248,817,041 RGS18, LINC02257, 1186 more genes
    nsv4066343copy number variation1nstd166human GRCh37.p13 chr1: 212,608,503-212,608,566 , GRCh38.p12 chr1: 212,435,161-212,435,224 NENF
    nsv4064506copy number variation1nstd166human GRCh37.p13 chr1: 212,581,094-212,612,167 , GRCh38.p12 chr1: 212,407,752-212,438,825 NENF, PACC1, 1 more genes
    nsv3958434copy number variation1nstd168human GRCh38 chr1: 212,410,156-212,442,519 , GRCh37.p13 chr1: 212,583,498-212,615,861 LOC105372906, PACC1, 1 more genes
    nsv3897747copy number variation1nstd102humanPathogenic GRCh38 chr1: 207,346,642-248,930,485 , GRCh37 chr1: 207,519,987-249,224,684 , NCBI36 chr1: 205,586,610-247,191,307 RPS18P3, LOC128136, 793 more genes
    nsv3895767copy number variation1nstd102humanPathogenic GRCh38 chr1: 187,143,981-224,299,417 , NCBI36 chr1: 185,379,736-222,553,742 , GRCh37 chr1: 187,113,113-224,487,119 LOC107985458, SLC45A3, 590 more genes
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