A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv817788



Internal ID16406629
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:30246688..30248345hg38UCSC Ensembl
Innerchr18:27826653..27828310hg19UCSC Ensembl
Innerchr18:26080651..26082308hg18UCSC Ensembl
Innerchr18:26080651..26082308hg17UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg381658
hg191658
hg181658
hg171658
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1415602
SamplesNA12154
Known Genes
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)nsv817788
Frequency
Sample Size112
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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