A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv56n64



Internal ID22780965
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:98111891..98222113hg38UCSC Ensembl
chr5:97447595..97557817hg19UCSC Ensembl
chr5:97473351..97583573hg18UCSC Ensembl
chr5:97473351..97583573hg17UCSC Ensembl
Cytoband5q15
Allele length
AssemblyAllele length
hg38110223
hg19110223
hg18110223
hg17110223
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv818360, nsv818359
SamplesNA19161, NA19160
Known Genes
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)dgv56n64
Frequency
Sample Size112
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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