A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv818715



Internal ID16060870
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:104051184..104088570hg38UCSC Ensembl
Innerchr9:106813465..106850851hg19UCSC Ensembl
Innerchr9:105853286..105890672hg18UCSC Ensembl
Innerchr9:103893020..103930406hg17UCSC Ensembl
Cytoband9q31.1
Allele length
AssemblyAllele length
hg3837387
hg1937387
hg1837387
hg1737387
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1416577
SamplesNA19171
Known GenesMIR6130
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)nsv818715
Frequency
Sample Size112
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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