A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv818384



Internal ID16407225
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:133898138..133910924hg38UCSC Ensembl
Innerchr5:133233829..133246615hg19UCSC Ensembl
Innerchr5:133261728..133274514hg18UCSC Ensembl
Innerchr5:133261728..133274514hg17UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg3812787
hg1912787
hg1812787
hg1712787
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1417187
SamplesNA18558
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)nsv818384
Frequency
Sample Size112
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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