A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv469588



Internal ID15534303
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:99820295..100003460hg38UCSC Ensembl
Innerchr5:99155999..99339164hg19UCSC Ensembl
Innerchr5:99183898..99367063hg18UCSC Ensembl
Innerchr5:99232215..99415380hg16UCSC Ensembl
Cytoband5q21.1
Allele length
AssemblyAllele length
hg38183166
hg19183166
hg18183166
hg16183166
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1676705, nssv1674350, nssv1675211, nssv1675942, nssv1674479, nssv1673651, nssv1674532
Samples
Known Genes
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)nsv469588
Frequency
Sample Size265
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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