A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv17n64



Internal ID20146455
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:31057180..31253973hg38UCSC Ensembl
chr12:31210114..31406907hg19UCSC Ensembl
chr12:31101381..31298174hg18UCSC Ensembl
chr12:31101381..31298174hg17UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg38196794
hg19196794
hg18196794
hg17196794
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv818899, nsv818901
SamplesNA19120, NA12740, NA12751, NA19119
Known GenesDDX11, DDX11-AS1
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)dgv17n64
Frequency
Sample Size112
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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