A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv8n64



Internal ID20146446
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:133538509..133620799hg38UCSC Ensembl
chr10:135352013..135434303hg19UCSC Ensembl
chr10:135202003..135284293hg18UCSC Ensembl
chr10:135240894..135323184hg17UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg3882291
hg1982291
hg1882291
hg1782291
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv818791, nsv818793, nsv818792
SamplesNA19171, NA19119, NA19194, NA19193, NA19143
Known GenesCYP2E1, SPRNP1, SYCE1
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)dgv8n64
Frequency
Sample Size112
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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