A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv73n64



Internal ID20146511
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:6540125..6939189hg38UCSC Ensembl
chrX:6458166..6857230hg19UCSC Ensembl
chrX:6468166..6867230hg18UCSC Ensembl
chrX:6317902..6716966hg17UCSC Ensembl
CytobandXp22.31
Allele length
AssemblyAllele length
hg38399065
hg19399065
hg18399065
hg17399065
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv818010, nsv818011
SamplesNA12057, NA18992
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)dgv73n64
Frequency
Sample Size112
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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