A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv818242



Internal ID16060397
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:67945419..68132435hg38UCSC Ensembl
Innerchr4:68811137..68998153hg19UCSC Ensembl
Innerchr4:68493732..68680748hg18UCSC Ensembl
Innerchr4:68639903..68826919hg17UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg38187017
hg19187017
hg18187017
hg17187017
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1416433
SamplesNA18517
Known GenesLOC550113, SYT14L, TMPRSS11A, TMPRSS11F, TMPRSS11GP
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)nsv818242
Frequency
Sample Size112
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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