A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv818918



Internal ID16407759
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:58795332..58829897hg38UCSC Ensembl
Innerchr12:59189114..59223679hg19UCSC Ensembl
Innerchr12:57475381..57509946hg18UCSC Ensembl
Innerchr12:57475381..57509946hg17UCSC Ensembl
Cytoband12q14.1
Allele length
AssemblyAllele length
hg3834566
hg1934566
hg1834566
hg1734566
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1415786
SamplesNA12875
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)nsv818918
Frequency
Sample Size112
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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