A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv25n64



Internal ID22780934
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:46092442..46272724hg38UCSC Ensembl
chr17:44169808..44350090hg19UCSC Ensembl
chr17:41525626..41705867hg18UCSC Ensembl
chr17:41525626..41705867hg17UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38180283
hg19180283
hg18180242
hg17180242
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv817769, nsv817767
SamplesNA12146, NA12812, NA12891, NA11993, NA10847, NA10863, NA12878, NA12234, NA12892, NA12239, NA07345, NA11881, NA10859, NA07348, NA10860
Known GenesKANSL1, KANSL1-AS1, LOC644172
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)dgv25n64
Frequency
Sample Size112
Observed Gain15
Observed Loss0
Observed Complex0
Frequencyn/a


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