A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv818137



Internal ID16060292
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:40427405..40524509hg38UCSC Ensembl
Innerchr3:40468896..40566000hg19UCSC Ensembl
Innerchr3:40443900..40541004hg18UCSC Ensembl
Innerchr3:40443900..40541004hg17UCSC Ensembl
Cytoband3p22.1
Allele length
AssemblyAllele length
hg3897105
hg1997105
hg1897105
hg1797105
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1418440
SamplesNA19192
Known GenesENTPD3, ENTPD3-AS1, RPL14, ZNF619, ZNF620
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)nsv818137
Frequency
Sample Size112
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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