A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv818466



Internal ID16060622
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:162317673..162318733hg38UCSC Ensembl
Innerchr6:162738705..162739765hg19UCSC Ensembl
Innerchr6:162658695..162659755hg18UCSC Ensembl
Innerchr6:162709116..162710176hg17UCSC Ensembl
Cytoband6q26
Allele length
AssemblyAllele length
hg381061
hg191061
hg181061
hg171061
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1417385
SamplesNA18949
Known GenesPARK2
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)nsv818466
Frequency
Sample Size112
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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