A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv818645



Internal ID16407486
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:94955610..94962145hg38UCSC Ensembl
Innerchr8:95967838..95974373hg19UCSC Ensembl
Innerchr8:96037014..96043549hg18UCSC Ensembl
Innerchr8:96037014..96043549hg17UCSC Ensembl
Cytoband8q22.1
Allele length
AssemblyAllele length
hg386536
hg196536
hg186536
hg176536
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1416463
SamplesNA18516
Known Genes
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)nsv818645
Frequency
Sample Size112
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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