A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1417235



Internal ID16404908
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:162106731..162376028hg38UCSC Ensembl
Innerchr1:162076521..162345818hg19UCSC Ensembl
Innerchr1:160343145..160612442hg18UCSC Ensembl
Innerchr1:158808179..159077476hg17UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg38269298
hg19269298
hg18269298
hg17269298
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv818511
Supporting Variants
SamplesNA18576
Known GenesC1orf111, MIR4654, MIR556, NOS1AP
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)nssv1417235
Frequency
Sample Size112
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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