A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv818451



Internal ID16060607
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:114276493..115149965hg38UCSC Ensembl
Innerchr6:114597657..115471129hg19UCSC Ensembl
Innerchr6:114704350..115577822hg18UCSC Ensembl
Innerchr6:114704350..115577822hg17UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg38873473
hg19873473
hg18873473
hg17873473
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1418282
SamplesNA19092
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)nsv818451
Frequency
Sample Size112
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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