A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv818450



Internal ID16407291
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:104890921..105137636hg38UCSC Ensembl
Innerchr6:105338796..105585511hg19UCSC Ensembl
Innerchr6:105445489..105692204hg18UCSC Ensembl
Innerchr6:105445489..105692204hg17UCSC Ensembl
Cytoband6q16.3
Allele length
AssemblyAllele length
hg38246716
hg19246716
hg18246716
hg17246716
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1418078, nssv1418079
SamplesNA11881, NA10859
Known GenesBVES, LIN28B, LINC00577
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)nsv818450
Frequency
Sample Size112
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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