A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv818144



Internal ID16060299
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 StatusM
Merged Variants
Supporting Variantsnssv1416836, nssv1418138, nssv1416536, nssv1416712, nssv1416713
SamplesNA19161, NA19239, NA19159, NA19145, NA19171
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)nsv818144
Frequency
Sample Size112
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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