A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv54n64



Internal ID20146492
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:32106978..32145851hg38UCSC Ensembl
chr5:32107084..32145957hg19UCSC Ensembl
chr5:32142841..32181714hg18UCSC Ensembl
chr5:32142841..32181714hg17UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg3838874
hg1938874
hg1838874
hg1738874
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv818342, nsv818343
SamplesNA18951, NA12264, NA12248
Known GenesGOLPH3, PDZD2
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)dgv54n64
Frequency
Sample Size112
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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