A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv818790



Internal ID16060945
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:133452885..133563944hg38UCSC Ensembl
Innerchr10:135266389..135377448hg19UCSC Ensembl
Innerchr10:135116379..135227438hg18UCSC Ensembl
Innerchr10:135155270..135266329hg17UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg38111060
hg19111060
hg18111060
hg17111060
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1416471, nssv1416175, nssv1417775, nssv1417908, nssv1417909, nssv1416470
SamplesNA18516, NA18854, NA12234, NA18515, NA12892, NA18853
Known GenesCYP2E1, SCART1, SYCE1
MethodSNP array
AnalysisAn integrated HMM algorithm was developed and we constructed accurate models for log R Ratio and B Allele Frequency. We developed more realistic models for state transition between different copy number states. PennCNV incorporates the population allele frequency for each SNP and the distance between adjacent SNPs. We incorporated a Bayesian approach into PennCNV to use family information for a posteriori CNV validation and CNV boundary mapping.
PlatformGPL6433
Comments
ReferenceWang_et_al_2007
Pubmed ID17921354
Accession Number(s)nsv818790
Frequency
Sample Size112
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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