A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv817718



Internal ID16059873
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:6996257..7001127hg38UCSC Ensembl
Innerchr16:7046258..7051128hg19UCSC Ensembl
Innerchr16:6986259..6991129hg18UCSC Ensembl
Innerchr16:6986259..6991129hg17UCSC Ensembl
Cytoband16p13.2
Allele length
AssemblyAllele length
hg384871
hg194871
hg184871
hg174871
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1417406
SamplesNA18951
Known GenesRBFOX1
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)nsv817718
Frequency
Sample Size112
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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