A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv818672



Internal ID16407513
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:1200036..1404430hg38UCSC Ensembl
Innerchr9:1200036..1404430hg19UCSC Ensembl
Innerchr9:1190036..1394430hg18UCSC Ensembl
Innerchr9:1190036..1394430hg17UCSC Ensembl
Cytoband9p24.3
Allele length
AssemblyAllele length
hg38204395
hg19204395
hg18204395
hg17204395
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1418086
SamplesNA11882
Known Genes
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)nsv818672
Frequency
Sample Size112
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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