A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv469692



Internal ID15534407
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:180758452..180933834hg38UCSC Ensembl
Innerchr5:180185452..180360834hg19UCSC Ensembl
Innerchr5:180118058..180293440hg18UCSC Ensembl
Innerchr5:180295114..180470496hg16UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg38175383
hg19175383
hg18175383
hg16175383
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9n29
Supporting Variantsnssv1674034, nssv1672994, nssv1674910
Samples
Known GenesBTNL8, HEIH, LINC00847, MGAT1, ZFP62
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)nsv469692
Frequency
Sample Size265
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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