A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv818188



Internal ID16407029
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:165547401..165596587hg38UCSC Ensembl
Innerchr3:165265189..165314375hg19UCSC Ensembl
Innerchr3:166747883..166797069hg18UCSC Ensembl
Innerchr3:166747891..166797077hg17UCSC Ensembl
Cytoband3q26.1
Allele length
AssemblyAllele length
hg3849187
hg1949187
hg1849187
hg1749187
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1416329, nssv1416330
SamplesNA18855, NA18857
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)nsv818188
Frequency
Sample Size112
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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