A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv818239



Internal ID16060394
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:65515863..65517712hg38UCSC Ensembl
Innerchr4:66381581..66383430hg19UCSC Ensembl
Innerchr4:66064176..66066025hg18UCSC Ensembl
Innerchr4:66210347..66212196hg17UCSC Ensembl
Cytoband4q13.1
Allele length
AssemblyAllele length
hg381850
hg191850
hg181850
hg171850
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1417855
SamplesNA18852
Known GenesEPHA5
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)nsv818239
Frequency
Sample Size112
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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