A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1415680



Internal ID16057603
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:135655059..135711894hg38UCSC Ensembl
Innerchr9:138546905..138603740hg19UCSC Ensembl
Innerchr9:137686726..137743561hg18UCSC Ensembl
Innerchr9:135772850..135829685hg17UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg3856836
hg1956836
hg1856836
hg1756836
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv818735
Supporting Variants
SamplesNA12248
Known GenesKCNT1, LCN9, SOHLH1
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)nssv1415680
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