A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1417415



Internal ID16405336
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:34570767..34611654hg38UCSC Ensembl
Innerchr6:34538544..34579431hg19UCSC Ensembl
Innerchr6:34646522..34687409hg18UCSC Ensembl
Innerchr6:34646522..34687409hg17UCSC Ensembl
Cytoband6p21.31
Allele length
AssemblyAllele length
hg3840888
hg1940888
hg1840888
hg1740888
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv818410
Supporting Variants
SamplesNA18951
Known GenesC6orf106
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)nssv1417415
Frequency
Sample Size112
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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