A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv818082



Internal ID16060237
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:131319806..131477413hg38UCSC Ensembl
Innerchr2:132077379..132234986hg19UCSC Ensembl
Innerchr2:131793849..131951456hg18UCSC Ensembl
Innerchr2:131911111..132068718hg17UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg38157608
hg19157608
hg18157608
hg17157608
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1415617
SamplesNA19140
Known GenesLINC01120, LOC401010, RNU6-81P, TUBA3D, WTH3DI
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)nsv818082
Frequency
Sample Size112
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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