A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv817617



Internal ID16406458
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:12448887..12473413hg38UCSC Ensembl
Innerchr1:12508943..12533468hg19UCSC Ensembl
Innerchr1:12431530..12456055hg18UCSC Ensembl
Innerchr1:12443209..12467734hg17UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg3824527
hg1924526
hg1824526
hg1724526
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1417810
SamplesNA18853
Known GenesVPS13D
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)nsv817617
Frequency
Sample Size112
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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