A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1418138



Internal ID16059400
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:62624950..62626338hg38UCSC Ensembl
Innerchr3:62610625..62612013hg19UCSC Ensembl
Innerchr3:62585665..62587053hg18UCSC Ensembl
Innerchr3:62585665..62587053hg17UCSC Ensembl
Cytoband3p14.2
Allele length
AssemblyAllele length
hg381389
hg191389
hg181389
hg171389
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv818144
Supporting Variants
SamplesNA19145
Known GenesCADPS
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)nssv1418138
Frequency
Sample Size112
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer