A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv9n29



Internal ID22767697
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:180758452..180976232hg38UCSC Ensembl
chr5:180185452..180403232hg19UCSC Ensembl
chr5:180118058..180335838hg18UCSC Ensembl
chr5:180295114..180512894hg16UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg38217781
hg19217781
hg18217781
hg16217781
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv469692, nsv469788
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)dgv9n29
Frequency
Sample Size265
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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