A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv469579



Internal ID8501276
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:179757830..179933191hg38UCSC Ensembl
Innerchr5:179184831..179360191hg19UCSC Ensembl
Innerchr5:179117437..179292797hg18UCSC Ensembl
Innerchr5:179294493..179469853hg16UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg38175362
hg19175361
hg18175361
hg16175361
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1672326
Samples
Known GenesC5orf45, LTC4S, MAML1, MGAT4B, MIR1229, MIR6165, SQSTM1, TBC1D9B
MethodBAC aCGH
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.
PlatformGPL4010
Comments
ReferenceLocke_et_al_2006
Pubmed ID16826518
Accession Number(s)nsv469579
Frequency
Sample Size265
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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