A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1417715



Internal ID16058916
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:239039919..239133857hg38UCSC Ensembl
Innerchr2:239961615..240055553hg19UCSC Ensembl
Innerchr2:239626552..239720490hg18UCSC Ensembl
Innerchr2:239697869..239791807hg17UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3893939
hg1993939
hg1893939
hg1793939
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv818118
Supporting Variants
SamplesNA18999
Known GenesHDAC4, MIR4440, MIR4441
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)nssv1417715
Frequency
Sample Size112
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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