A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1417516



Internal ID16057667
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:10469593..10528561hg38UCSC Ensembl
Innerchr6:10469826..10528794hg19UCSC Ensembl
Innerchr6:10577812..10636780hg18UCSC Ensembl
Innerchr6:10577812..10636780hg17UCSC Ensembl
Cytoband6p24.2
Allele length
AssemblyAllele length
hg3858969
hg1958969
hg1858969
hg1758969
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv818399
Supporting Variants
SamplesNA12264
Known GenesGCNT2
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)nssv1417516
Frequency
Sample Size112
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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