A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1415681



Internal ID16057602
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:136740043..137009585hg38UCSC Ensembl
Innerchr9:139634495..139904037hg19UCSC Ensembl
Innerchr9:138754316..139023858hg18UCSC Ensembl
Innerchr9:136910332..137179874hg17UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg38269543
hg19269543
hg18269543
hg17269543
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv818738
Supporting Variants
SamplesNA12248
Known GenesABCA2, C8G, C9orf142, C9orf172, CCDC183, CCDC183-AS1, CLIC3, EDF1, FBXW5, LCN10, LCN12, LCN15, LCN6, LCN8, LCNL1, LOC100128593, MAMDC4, MIR4292, MIR4479, MIR6722, PHPT1, PTGDS, RABL6, TMEM141, TRAF2
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)nssv1415681
Frequency
Sample Size112
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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