A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv818702



Internal ID16060857
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:39004143..39184068hg38UCSC Ensembl
Innerchr9:39004140..39184065hg19UCSC Ensembl
Innerchr9:38994140..39174065hg18UCSC Ensembl
Innerchr9:38994140..39174065hg17UCSC Ensembl
Cytoband9p13.1
Allele length
AssemblyAllele length
hg38179926
hg19179926
hg18179926
hg17179926
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1416171, nssv1416173
SamplesNA12892, NA12878
Known GenesCNTNAP3
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)nsv818702
Frequency
Sample Size112
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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