A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1418438



Internal ID16406336
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:169498280..169512288hg38UCSC Ensembl
Innerchr2:170354790..170368798hg19UCSC Ensembl
Innerchr2:170063036..170077044hg18UCSC Ensembl
Innerchr2:170180297..170194305hg17UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg3814009
hg1914009
hg1814009
hg1714009
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv818095
Supporting Variants
SamplesNA19193
Known GenesBBS5, KLHL41
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)nssv1418438
Frequency
Sample Size112
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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