A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv469579



Internal ID6055463
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:179184831..179360191hg19UCSC Ensembl
Innerchr5:179117437..179292797hg18UCSC Ensembl
Innerchr5:179117437..179292797hg17UCSC Ensembl
Innerchr5:179294493..179469853hg16UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
hg17n/a
hg16n/a
Variant TypeCNV Loss
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusM
Merged Variants
Supporting Variantsnssv649693
Samples
Known GenesC5orf45, LTC4S, MAML1, MGAT4B, MIR1229, SQSTM1, TBC1D9B
Method
AnalysisA locus was considered a CNV if the log ratio of fluorescence measurements for the individuals assayed exceeded twice the SD of the autosomal clones in both dye-swapped experiments.
PlatformEichler Segmental Duplication BAC array
Comments
ReferenceLocke et al 2006
Pubmed ID16826518
Accession Number(s)nsv469579
Frequency
Sample Size265
Observed Gain0
Observed Loss1
Observed Complexn/a
Frequencyn/a


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