A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv818376



Internal ID16407217
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:111570373..111575088hg38UCSC Ensembl
Innerchr5:110906071..110910785hg19UCSC Ensembl
Innerchr5:110933970..110938684hg18UCSC Ensembl
Innerchr5:110933970..110938684hg17UCSC Ensembl
Cytoband5q22.1
Allele length
AssemblyAllele length
hg384716
hg194715
hg184715
hg174715
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1416737, nssv1418269, nssv1418271
SamplesNA19092, NA19160, NA19094
Known GenesSTARD4-AS1
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)nsv818376
Frequency
Sample Size112
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer