A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1417871



Internal ID16405163
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:85836405..85856225hg38UCSC Ensembl
Innerchr6:86546123..86565943hg19UCSC Ensembl
Innerchr6:86602842..86622662hg18UCSC Ensembl
Innerchr6:86602842..86622662hg17UCSC Ensembl
Cytoband6q14.3
Allele length
AssemblyAllele length
hg3819821
hg1919821
hg1819821
hg1719821
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv818441
Supporting Variants
SamplesNA18854
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)nssv1417871
Frequency
Sample Size112
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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