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Items: 1 to 20 of 191

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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
    nsv6650773copy number variation1nstd229human GRCh38 chr1: 46,718,999-46,720,022 , GRCh37.p13 chr1: 47,184,671-47,185,694 EFCAB14
    nsv6650772copy number variation1nstd229human GRCh38 chr1: 46,702,556-46,702,660 , GRCh37.p13 chr1: 47,168,228-47,168,332 EFCAB14
    nsv6650698copy number variation1nstd229human GRCh38 chr1: 46,687,000-46,700,700 , GRCh37.p13 chr1: 47,152,672-47,166,372 LOC105378698, EFCAB14, 1 more genes
    nsv6650692copy number variation1nstd229human GRCh38 chr1: 46,532,482-46,835,577 , GRCh37.p13 chr1: 46,998,154-47,301,249 LOC105378697, EFCAB14, 12 more genes
    nsv6650559copy number variation1nstd229human GRCh38 chr1: 46,718,821-46,718,858 , GRCh37.p13 chr1: 47,184,493-47,184,530 EFCAB14
    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
    nsv6133997copy number variation1nstd213human GRCh37 chr1: 46,960,000-47,650,001 , GRCh38.p12 chr1: 46,494,328-47,184,329 CYP4A11, CYP4B1, 28 more genes
    nsv5830039copy number variation1nstd209human GRCh38 chr1: 46,712,760-46,715,729 , GRCh37.p13 chr1: 47,178,432-47,181,401 EFCAB14
    nsv5415795copy number variation1nstd206human GRCh38 chr1: 46,702,556-46,702,662 , GRCh37.p13 chr1: 47,168,228-47,168,334 EFCAB14
    nsv5180671mobile element insertion1nstd203human GRCh38 chr1: 46,675,169-46,675,182 , GRCh37.p13 chr1: 47,140,841-47,140,854 EFCAB14-AS1, EFCAB14
    nsv5075428mobile element insertion1nstd203human GRCh38 chr1: 46,674,864-46,674,881 , GRCh37.p13 chr1: 47,140,536-47,140,553 EFCAB14-AS1, EFCAB14
    nsv5071829mobile element insertion1nstd203human GRCh38 chr1: 46,703,430-46,703,446 , GRCh37.p13 chr1: 47,169,102-47,169,118 EFCAB14
    nsv4889993copy number variation1nstd200human GRCh38 chr1: 46,712,814-46,714,585 , GRCh37.p13 chr1: 47,178,486-47,180,257 EFCAB14
    nsv4773405copy number variation1nstd200human GRCh37 chr1: 47,178,490-47,180,257 , GRCh38.p12 chr1: 46,712,818-46,714,585 EFCAB14
    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
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