A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv818075



Internal ID16406916
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:98239034..98255576hg38UCSC Ensembl
Innerchr2:98855497..98872039hg19UCSC Ensembl
Innerchr2:98221929..98238471hg18UCSC Ensembl
Innerchr2:98314015..98330557hg17UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg3816543
hg1916543
hg1816543
hg1716543
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1416323, nssv1416322
SamplesNA18856, NA18857
Known GenesVWA3B
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)nsv818075
Frequency
Sample Size112
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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