A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv469788



Internal ID15534503
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:180783102..180976232hg38UCSC Ensembl
Innerchr5:180210102..180403232hg19UCSC Ensembl
Innerchr5:180142708..180335838hg18UCSC Ensembl
Innerchr5:180319764..180512894hg16UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg38193131
hg19193131
hg18193131
hg16193131
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9n29
Supporting Variantsnssv1672357, nssv1674249, nssv1672861, nssv1674495
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)nsv469788
Frequency
Sample Size265
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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