A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv818731



Internal ID16407572
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:134739352..134755468hg38UCSC Ensembl
Innerchr9:137631198..137647314hg19UCSC Ensembl
Innerchr9:136771019..136787135hg18UCSC Ensembl
Innerchr9:134857143..134873259hg17UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg3816117
hg1916117
hg1816117
hg1716117
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1417707
SamplesNA18999
Known GenesCOL5A1
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)nsv818731
Frequency
Sample Size112
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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