A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv818122



Internal ID16060277
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:2531464..2531847hg38UCSC Ensembl
Innerchr3:2573148..2573531hg19UCSC Ensembl
Innerchr3:2548148..2548531hg18UCSC Ensembl
Innerchr3:2548148..2548531hg17UCSC Ensembl
Cytoband3p26.3
Allele length
AssemblyAllele length
hg38384
hg19384
hg18384
hg17384
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1417256, nssv1417193
SamplesNA18593, NA18558
Known GenesCNTN4
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)nsv818122
Frequency
Sample Size112
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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