A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv818795



Internal ID16407636
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:4146186..4217700hg38UCSC Ensembl
Innerchr11:4167416..4238930hg19UCSC Ensembl
Innerchr11:4123992..4195506hg18UCSC Ensembl
Innerchr11:4123992..4195506hg17UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg3871515
hg1971515
hg1871515
hg1771515
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1418180
SamplesNA19144
Known GenesLOC100506082
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)nsv818795
Frequency
Sample Size112
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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