A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv818386



Internal ID16407227
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:139708492..139765499hg38UCSC Ensembl
Innerchr5:139088077..139145084hg19UCSC Ensembl
Innerchr5:139068261..139125268hg18UCSC Ensembl
Innerchr5:139068261..139125268hg17UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg3857008
hg1957008
hg1857008
hg1757008
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1417696
SamplesNA18999
Known GenesLOC101929696
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)nsv818386
Frequency
Sample Size112
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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