A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv818899



Internal ID16061054
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:31057180..31253973hg38UCSC Ensembl
Innerchr12:31210114..31406907hg19UCSC Ensembl
Innerchr12:31101381..31298174hg18UCSC Ensembl
Innerchr12:31101381..31298174hg17UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg38196794
hg19196794
hg18196794
hg17196794
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv17n64
Supporting Variantsnssv1415997
SamplesNA12751
Known GenesDDX11, DDX11-AS1
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)nsv818899
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