A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv469779



Internal ID15187808
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:7963526..8175919hg38UCSC Ensembl
Innerchr4:7965253..8177646hg19UCSC Ensembl
Innerchr4:8016153..8228546hg18UCSC Ensembl
Innerchr4:8157848..8370241hg16UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg38212394
hg19212394
hg18212394
hg16212394
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1673006
Samples
Known GenesABLIM2
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)nsv469779
Frequency
Sample Size265
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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