A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv818718



Internal ID16407559
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:106422314..106528916hg38UCSC Ensembl
Innerchr9:109184595..109291197hg19UCSC Ensembl
Innerchr9:108224416..108331018hg18UCSC Ensembl
Innerchr9:106264150..106370752hg17UCSC Ensembl
Cytoband9q31.2
Allele length
AssemblyAllele length
hg38106603
hg19106603
hg18106603
hg17106603
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1416082
SamplesNA12812
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)nsv818718
Frequency
Sample Size112
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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