A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv818168



Internal ID16060323
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:135014674..135017829hg38UCSC Ensembl
Innerchr3:134733516..134736671hg19UCSC Ensembl
Innerchr3:136216206..136219361hg18UCSC Ensembl
Innerchr3:136216214..136219369hg17UCSC Ensembl
Cytoband3q22.2
Allele length
AssemblyAllele length
hg383156
hg193156
hg183156
hg173156
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1417301
SamplesNA18608
Known GenesEPHB1
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)nsv818168
Frequency
Sample Size112
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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