A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv46n64



Internal ID22780955
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:65199224..65230129hg38UCSC Ensembl
chr3:65184899..65215804hg19UCSC Ensembl
chr3:65159939..65190844hg18UCSC Ensembl
chr3:65159939..65190844hg17UCSC Ensembl
Cytoband3p14.1
Allele length
AssemblyAllele length
hg3830906
hg1930906
hg1830906
hg1730906
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv818147, nsv818148
SamplesNA12750, NA12056
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)dgv46n64
Frequency
Sample Size112
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer