A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv818409



Internal ID16060564
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:31392612..31489801hg38UCSC Ensembl
Innerchr6:31360389..31457578hg19UCSC Ensembl
Innerchr6:31468368..31565557hg18UCSC Ensembl
Innerchr6:31468368..31565557hg17UCSC Ensembl
Cytoband6p21.33
Allele length
AssemblyAllele length
hg3897190
hg1997190
hg1897190
hg1797190
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1417198
SamplesNA18558
Known GenesHCG26, HCP5, MICA
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)nsv818409
Frequency
Sample Size112
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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