A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1417206



Internal ID16404891
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:83009613..83028664hg38UCSC Ensembl
Innerchr17:80967489..80986540hg19UCSC Ensembl
Innerchr17:78560778..78579829hg18UCSC Ensembl
Innerchr17:78560778..78579829hg17UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg3819052
hg1919052
hg1819052
hg1719052
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv817777
Supporting Variants
SamplesNA18558
Known GenesB3GNTL1
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)nssv1417206
Frequency
Sample Size112
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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