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Items: 1 to 20 of 124

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7096698copy number variation1nstd102humanPathogenic GRCh37 chr3: 14,214,357-14,220,439 , GRCh38.p12 chr3: 14,172,857-14,178,939 XPC, LSM3
    nsv6716896copy number variation1nstd229human GRCh38 chr3: 14,178,611-14,178,645 , GRCh37.p13 chr3: 14,220,111-14,220,145 LSM3, XPC
    nsv6716879copy number variation1nstd229human GRCh38 chr3: 14,200,219-14,200,280 , GRCh37.p13 chr3: 14,241,719-14,241,780 LSM3
    nsv6714894copy number variation1nstd229human GRCh38 chr3: 14,064,301-14,499,300 , GRCh37.p13 chr3: 14,105,801-14,540,808 TMEM43, SLC6A6, 11 more genes
    nsv6702449copy number variation1nstd229human GRCh38 chr3: 14,170,301-14,203,000 , GRCh37.p13 chr3: 14,211,801-14,244,500 LSM3, XPC
    nsv6634367copy number variation1nstd102humanPathogenic GRCh37 chr3: 13,836,340-25,357,427 , GRCh38.p12 chr3: 13,794,843-25,315,936 TMEM43, SLC6A6, 132 more genes
    nsv6373295copy number variation1nstd223human GRCh38 chr3: 14,196,060-14,241,043 , GRCh37.p13 chr3: 14,237,560-14,282,543 LSM3, LOC105376958
    nsv6315249copy number variation1nstd102humanPathogenic GRCh38 chr3: 13,371,737-20,095,506 , GRCh37.p13 chr3: 13,413,237-20,136,998 RNU6-905P, PRR3P1, 99 more genes
    nsv6311956copy number variation1nstd102humanPathogenic GRCh37 chr3: 14,206,303-14,220,439 , GRCh38.p12 chr3: 14,164,803-14,178,939 XPC, LSM3
    nsv6281274insertion1nstd214human GRCh38 chr3: 14,200,219-14,200,219 , GRCh37.p13 chr3: 14,241,719-14,241,719 LSM3
    nsv5992038copy number variation1nstd212human GRCh38 chr3: 14,178,393-14,178,444 , GRCh37.p13 chr3: 14,219,893-14,219,944 LSM3, XPC
    nsv5992037copy number variation1nstd212human GRCh38 chr3: 14,177,704-14,178,345 , GRCh37.p13 chr3: 14,219,204-14,219,845 XPC, LSM3
    nsv5722751mobile element insertion2nstd211human GRCh38 chr3: 14,194,620-14,194,620 , GRCh37.p13 chr3: 14,236,120-14,236,120 LSM3
    nsv5673474copy number variation1nstd102humanPathogenic GRCh37 chr3: 14,166,684-14,220,439 , GRCh38.p12 chr3: 14,125,184-14,178,939 XPC, TMEM43, 3 more genes
    nsv5555763mobile element insertion1nstd206human GRCh38 chr3: 14,194,620-14,194,662 , GRCh37.p13 chr3: 14,236,120-14,236,162 LSM3
    nsv5448354copy number variation1nstd206human GRCh38 chr3: 14,200,219-14,200,288 , GRCh37.p13 chr3: 14,241,719-14,241,788 LSM3
    nsv5366998translocation1nstd200human GRCh38 chr3: 14,198,343-14,198,343 , GRCh38 chr13: 96,125,381-96,125,381 , GRCh37.p13 chr3: 14,239,843-14,239,843 , GRCh37.p13 chr13: 96,777,635-96,777,635 HS6ST3, LSM3
    nsv5037434inversion1nstd200human GRCh38 chr3: 5,031,119-56,902,223 , GRCh37.p13 chr3: 5,072,804-56,936,251 , IRAK2, 925 more genes
    nsv5030280inversion1nstd200human GRCh38 chr3: 3,432,416-77,775,308 , GRCh37.p13 chr3: 3,474,100-77,824,459 , BHLHE40, 1198 more genes
    nsv4888770inversion1nstd200human GRCh37 chr3: 3,474,100-77,824,459 , GRCh38.p12 chr3: 3,432,416-77,775,308 , ATRIP, 1198 more genes
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