A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv818147



Internal ID16406988
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:65199224..65226921hg38UCSC Ensembl
Innerchr3:65184899..65212596hg19UCSC Ensembl
Innerchr3:65159939..65187636hg18UCSC Ensembl
Innerchr3:65159939..65187636hg17UCSC Ensembl
Cytoband3p14.1
Allele length
AssemblyAllele length
hg3827698
hg1927698
hg1827698
hg1727698
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv46n64
Supporting Variantsnssv1416224
SamplesNA12056
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)nsv818147
Frequency
Sample Size112
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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