A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv818180



Internal ID16407021
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:155763820..155776126hg38UCSC Ensembl
Innerchr3:155481609..155493915hg19UCSC Ensembl
Innerchr3:156964303..156976609hg18UCSC Ensembl
Innerchr3:156964311..156976617hg17UCSC Ensembl
Cytoband3q25.31
Allele length
AssemblyAllele length
hg3812307
hg1912307
hg1812307
hg1712307
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1416638, nssv1416627, nssv1416045
SamplesNA10857, NA12813, NA12043
Known GenesC3orf33
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)nsv818180
Frequency
Sample Size112
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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