A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv818673



Internal ID16407514
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:4499426..4502575hg38UCSC Ensembl
Innerchr9:4499426..4502575hg19UCSC Ensembl
Innerchr9:4489426..4492575hg18UCSC Ensembl
Innerchr9:4489426..4492575hg17UCSC Ensembl
Cytoband9p24.2
Allele length
AssemblyAllele length
hg383150
hg193150
hg183150
hg173150
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1416374, nssv1416373
SamplesNA18855, NA18857
Known GenesSLC1A1
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)nsv818673
Frequency
Sample Size112
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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