A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5n64



Internal ID19005195
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:28273718..28282931hg38UCSC Ensembl
chr10:28562647..28571860hg19UCSC Ensembl
chr10:28602653..28611866hg18UCSC Ensembl
chr10:28602653..28611866hg17UCSC Ensembl
Cytoband10p11.23
Allele length
AssemblyAllele length
hg389214
hg199214
hg189214
hg179214
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv818753, nsv818752
SamplesNA19093, NA18856, NA19094
Known GenesMPP7
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)dgv5n64
Frequency
Sample Size112
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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