A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv818636



Internal ID16407477
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:68724364..68729970hg38UCSC Ensembl
Innerchr8:69636599..69642205hg19UCSC Ensembl
Innerchr8:69799153..69804759hg18UCSC Ensembl
Innerchr8:69799153..69804759hg17UCSC Ensembl
Cytoband8q13.2
Allele length
AssemblyAllele length
hg385607
hg195607
hg185607
hg175607
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1417895
SamplesNA18852
Known GenesC8orf34
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)nsv818636
Frequency
Sample Size112
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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