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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7099198copy number variation1nstd231human GRCh38.p12 chr1: 44,129,375-46,768,878 , GRCh37 chr1: 44,595,047-47,234,550 PLK3, FAAH, 93 more genes
    nsv7055071inversion1nstd229human GRCh38 chr1: 43,970,005-47,371,780 , GRCh37.p13 chr1: 44,435,677-47,837,452 SNORD38A, PPIAP36, 121 more genes
    nsv7046201inversion1nstd229human GRCh38 chr1: 45,964,231-47,257,863 , GRCh37.p13 chr1: 46,429,903-47,723,535 TUBAP9, MKNK1-AS1, 45 more genes
    nsv6650687copy number variation1nstd229human GRCh38 chr1: 46,300,301-46,530,600 , GRCh37.p13 chr1: 46,765,973-46,996,272 UQCRH, LRRC41, 6 more genes
    nsv6650551copy number variation1nstd229human GRCh38 chr1: 46,413,879-46,555,313 , GRCh37.p13 chr1: 46,879,551-47,020,985 KNCN, FAAHP1, 5 more genes
    nsv6650027copy number variation1nstd229human GRCh38 chr1: 46,449,243-46,449,414 , GRCh37.p13 chr1: 46,914,915-46,915,086 LINC01398
    nsv6650021copy number variation1nstd229human GRCh38 chr1: 46,181,601-46,634,000 , GRCh37.p13 chr1: 46,647,273-47,099,672 FAAH, ATPAF1, 16 more genes
    nsv6330726copy number variation1nstd223human GRCh38 chr1: 46,447,901-46,448,500 , GRCh37.p13 chr1: 46,913,573-46,914,172 LINC01398
    nsv6313688copy number variation1nstd102humanPathogenic GRCh37 chr1: 33,285,582-47,891,811 , GRCh38.p12 chr1: 32,819,981-47,426,139 LOC107984940, PPIAP36, 407 more genes
    nsv6298106copy number variation1nstd186human GRCh37 chr1: 46,914,915-46,915,086 , GRCh38.p12 chr1: 46,449,243-46,449,414 LINC01398
    nsv5870049copy number variation1nstd209human GRCh38 chr1: 46,449,242-46,449,413 , GRCh37.p13 chr1: 46,914,914-46,915,085 LINC01398
    nsv5430257copy number variation1nstd206human GRCh38 chr1: 46,449,243-46,449,414 , GRCh37.p13 chr1: 46,914,915-46,915,086 LINC01398
    nsv4906346copy number variation1nstd200human GRCh38 chr1: 46,449,243-46,449,414 , GRCh37.p13 chr1: 46,914,915-46,915,086 LINC01398
    nsv4773398copy number variation1nstd200human GRCh37 chr1: 46,914,915-46,915,086 , GRCh38.p12 chr1: 46,449,243-46,449,414 LINC01398
    nsv4767860inversion1nstd199human GRCh37 chr1: 17,051,740-234,912,187 , GRCh38.p12 chr1: 16,725,245-234,776,440 , ABCA4, 4269 more genes
    nsv4761183inversion1nstd199human GRCh37 chr1: 16,884,570-145,374,569 , GRCh38.p12 chr1: 16,558,075-149,528,945 , ABCA4, 2341 more genes
    nsv4751400inversion1nstd199human GRCh37 chr1: 17,125,657-234,919,132 , GRCh38.p12 chr1: 16,799,162-234,783,385 , ABCA4, 4264 more genes
    nsv4674754copy number variation1nstd102humanUncertain significance GRCh37 chr1: 46,880,370-47,015,073 , GRCh38.p12 chr1: 46,414,698-46,549,401 KNCN, MKNK1-AS1, 4 more genes
    nsv4674638copy number variation1nstd102humanUncertain significance GRCh37 chr1: 46,768,408-47,174,149 , GRCh38.p12 chr1: 46,302,736-46,708,477 UQCRH, MKNK1-AS1, 17 more genes
    nsv4461928mobile element insertion1nstd166human GRCh37.p13 chr1: 46,914,579-46,914,579 , GRCh38.p12 chr1: 46,448,907-46,448,907 LINC01398
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