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Items: 1 to 20 of 119

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5480574copy number variation1nstd206human GRCh38 chr8: 58,496,598-58,497,241 , GRCh37.p13 chr8: 59,409,157-59,409,800 CYP7A1
    nsv5477574copy number variation1nstd206human GRCh38 chr8: 58,496,467-58,496,578 , GRCh37.p13 chr8: 59,409,026-59,409,137 CYP7A1
    nsv4960458copy number variation1nstd200human GRCh38 chr8: 58,493,939-58,494,023 , GRCh37.p13 chr8: 59,406,498-59,406,582 CYP7A1
    nsv4456871copy number variation1nstd102humanPathogenic GRCh37 chr8: 39,555,657-64,049,089 , GRCh38.p12 chr8: 39,698,138-63,136,530 CRIPTOP5, TRIM60P15, 297 more genes
    nsv4456811copy number variation1nstd102humanPathogenic GRCh37 chr8: 31,936,551-146,295,771 , GRCh38.p12 chr8: 32,079,035-145,070,385 TERF1, LOC107986945, 1511 more genes
    nsv4370623copy number variation1nstd173human GRCh37 chr8: 59,406,030-59,427,027 , GRCh38.p12 chr8: 58,493,471-58,514,468 , PPIAP85, 1 more genes
    nsv4349554copy number variation2nstd102humanPathogenic GRCh37 chr8: 158,048-146,295,771 , GRCh38.p12 chr8: 208,048-145,070,385 LOC101929488, TEX15, 2105 more genes
    nsv4318272inversion1nstd166human GRCh37.p13 chr8: 51,271,211-76,167,888 , GRCh38.p12 chr8: 50,358,651-75,255,653 , ASPH, 341 more genes
    nsv4166206copy number variation1nstd166human GRCh37.p13 chr8: 59,409,026-59,409,137 , GRCh38.p12 chr8: 58,496,467-58,496,578 CYP7A1
    nsv4162777copy number variation1nstd166human GRCh37.p13 chr8: 59,406,991-59,407,052 , GRCh38.p12 chr8: 58,494,432-58,494,493 CYP7A1
    nsv4157461copy number variation1nstd166human GRCh37.p13 chr8: 59,386,187-60,427,626 , GRCh38.p12 chr8: 58,473,628-59,515,067 , RNU4-50P, 9 more genes
    nsv4156498copy number variation1nstd166human GRCh37.p13 chr8: 59,406,022-59,416,724 , GRCh38.p12 chr8: 58,493,463-58,504,165 PPIAP85, CYP7A1
    nsv3923517copy number variation1nstd102humanPathogenic NCBI36 chr8: 36,556,779-60,694,111 , GRCh37 chr8: 36,437,621-60,531,557 , GRCh38 chr8: 36,580,103-59,618,998 LOC105379380, TPT1P8, 320 more genes
    nsv3923501copy number variation1nstd102humanPathogenic NCBI36 chr8: 55,896,471-62,221,415 , GRCh38 chr8: 54,821,357-61,146,302 , GRCh37 chr8: 55,733,917-62,058,861 NUDT15P1, LINC01301, 83 more genes
    nsv3923310copy number variation1nstd102humanPathogenic NCBI36 chr8: 166,452-146,264,902 , GRCh38 chr8: 226,452-145,068,712 , GRCh37 chr8: 176,452-146,294,098 LOC112268023, RPL23AP96, 2105 more genes
    nsv3923110copy number variation1nstd102humanPathogenic GRCh37 chr8: 57,838,371-62,604,418 , NCBI36 chr8: 58,000,925-62,766,972 , GRCh38 chr8: 56,925,812-61,691,859 LOC105375855, LOC105375858, 50 more genes
    nsv3919282copy number variation1nstd102humanPathogenic GRCh37 chr8: 191,530-146,280,020 , GRCh38 chr8: 241,530-145,054,634 , NCBI36 chr8: 181,530-146,250,824 MIR4662B, LOC101927845, 2104 more genes
    nsv3919200copy number variation1nstd102humanPathogenic GRCh38 chr8: 241,530-145,049,449 , GRCh37 chr8: 191,530-146,274,835 , NCBI36 chr8: 181,530-146,245,639 LOC112268023, LOC105375925, 2103 more genes
    nsv3919101copy number variation1nstd102humanPathogenic GRCh38 chr8: 55,423,413-58,836,753 , NCBI36 chr8: 56,498,527-59,911,866 , GRCh37 chr8: 56,335,973-59,749,312 RPL37P6, RN7SL323P, 59 more genes
    nsv3916777copy number variation1nstd102humanPathogenic GRCh37 chr8: 158,048-146,295,771 , GRCh38 chr8: 208,048-145,070,385 , NCBI36 chr8: 148,048-146,266,575 RPL5P22, ARHGEF10, 2105 more genes
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