A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv818096



Internal ID16060251
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:182836860..182962290hg38UCSC Ensembl
Innerchr2:183701588..183827018hg19UCSC Ensembl
Innerchr2:183409833..183535263hg18UCSC Ensembl
Innerchr2:183527094..183652524hg17UCSC Ensembl
Cytoband2q32.1
Allele length
AssemblyAllele length
hg38125431
hg19125431
hg18125431
hg17125431
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1416918
SamplesNA19139
Known GenesFRZB, NCKAP1
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)nsv818096
Frequency
Sample Size112
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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