A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1417458



Internal ID16058678
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:69485135..69504046hg38UCSC Ensembl
Innerchr9:72100051..72118962hg19UCSC Ensembl
Innerchr9:71289871..71308782hg18UCSC Ensembl
Innerchr9:69329605..69348516hg17UCSC Ensembl
Cytoband9q21.11
Allele length
AssemblyAllele length
hg3818912
hg1918912
hg1818912
hg1718912
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv818704
Supporting Variants
SamplesNA18953
Known GenesAPBA1
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)nssv1417458
Frequency
Sample Size112
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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