A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1417708



Internal ID16058909
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:135667037..135698292hg38UCSC Ensembl
Innerchr9:138558883..138590138hg19UCSC Ensembl
Innerchr9:137698704..137729959hg18UCSC Ensembl
Innerchr9:135784828..135816083hg17UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg3831256
hg1931256
hg1831256
hg1731256
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv818736
Supporting Variants
SamplesNA18999
Known GenesSOHLH1
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)nssv1417708
Frequency
Sample Size112
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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