A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1418064



Internal ID16403833
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:6691940..6699111hg38UCSC Ensembl
Innerchr5:6692053..6699224hg19UCSC Ensembl
Innerchr5:6745053..6752224hg18UCSC Ensembl
Innerchr5:6745053..6752224hg17UCSC Ensembl
Cytoband5p15.31
Allele length
AssemblyAllele length
hg387172
hg197172
hg187172
hg177172
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv818309
Supporting Variants
SamplesNA10859
Known GenesLOC100505625
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)nssv1418064
Frequency
Sample Size112
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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