A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv818699



Internal ID16060854
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:34535211..34685943hg38UCSC Ensembl
Innerchr9:34535209..34685940hg19UCSC Ensembl
Innerchr9:34525209..34675940hg18UCSC Ensembl
Innerchr9:34525209..34675940hg17UCSC Ensembl
Cytoband9p13.3
Allele length
AssemblyAllele length
hg38150733
hg19150732
hg18150732
hg17150732
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1415676
SamplesNA12248
Known GenesARID3C, CCL27, CNTFR, CNTFR-AS1, DCTN3, GALT, IL11RA, RPP25L, SIGMAR1
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)nsv818699
Frequency
Sample Size112
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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