A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv817995



Internal ID16406836
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:58163403..58223434hg38UCSC Ensembl
Innerchr2:58390538..58450569hg19UCSC Ensembl
Innerchr2:58244042..58304073hg18UCSC Ensembl
Innerchr2:58302189..58362220hg17UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg3860032
hg1960032
hg1860032
hg1760032
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1418432
SamplesNA19193
Known GenesFANCL
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)nsv817995
Frequency
Sample Size112
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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