A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv61n64



Internal ID22780970
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:167943158..168195571hg38UCSC Ensembl
chr6:168343838..168596251hg19UCSC Ensembl
chr6:168086687..168339100hg18UCSC Ensembl
chr6:168162394..168414807hg17UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg38252414
hg19252414
hg18252414
hg17252414
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv818470, nsv818469
SamplesNA12249, NA06985
Known GenesFRMD1, HGC6.3, KIF25, KIF25-AS1, MLLT4
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)dgv61n64
Frequency
Sample Size112
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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