A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv818778



Internal ID16060933
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:204353807..204386116hg38UCSC Ensembl
Innerchr1:204322935..204355244hg19UCSC Ensembl
Innerchr1:202589558..202621867hg18UCSC Ensembl
Innerchr1:201054592..201086901hg17UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg3832310
hg1932310
hg1832310
hg1732310
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1417713
SamplesNA18999
Known GenesLINC00628, PLEKHA6
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)nsv818778
Frequency
Sample Size112
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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