A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv469515



Internal ID15187544
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:77080181..77230847hg38UCSC Ensembl
Innerchr5:76376006..76526672hg19UCSC Ensembl
Innerchr5:76411762..76562428hg18UCSC Ensembl
Innerchr5:76460079..76610745hg16UCSC Ensembl
Cytoband5q13.3
Allele length
AssemblyAllele length
hg38150667
hg19150667
hg18150667
hg16150667
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1675816
Samples
Known GenesPDE8B, SNORA47, ZBED3, ZBED3-AS1
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)nsv469515
Frequency
Sample Size265
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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