A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv818953



Internal ID16061108
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:26072287..26081858hg38UCSC Ensembl
Innerchr13:26646425..26655996hg19UCSC Ensembl
Innerchr13:25544425..25553996hg18UCSC Ensembl
Innerchr13:25544425..25553996hg17UCSC Ensembl
Cytoband13q12.13
Allele length
AssemblyAllele length
hg389572
hg199572
hg189572
hg179572
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1417346
SamplesNA18609
Known Genes
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)nsv818953
Frequency
Sample Size112
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer