A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1676268



Internal ID15533776
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:21458097..21598881hg38UCSC Ensembl
Innerchr5:21458206..21598990hg19UCSC Ensembl
Innerchr5:21493963..21634747hg18UCSC Ensembl
Innerchr5:21503707..21644491hg16UCSC Ensembl
Cytoband5p14.3
Allele length
AssemblyAllele length
hg38140785
hg19140785
hg18140785
hg16140785
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv469672
Supporting Variants
Samples
Known GenesGUSBP1
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)nssv1676268
Frequency
Sample Size265
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer