A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv817726



Internal ID16059881
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:21563897..21728953hg38UCSC Ensembl
Innerchr16:21575218..21740274hg19UCSC Ensembl
Innerchr16:21482719..21647775hg18UCSC Ensembl
Innerchr16:21482719..21647775hg17UCSC Ensembl
Cytoband16p12.2
Allele length
AssemblyAllele length
hg38165057
hg19165057
hg18165057
hg17165057
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1416502
SamplesNA18517
Known GenesIGSF6, METTL9, OTOA
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)nsv817726
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