A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv598406



Internal ID16385815
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:66665377..66768198hg38UCSC Ensembl
Innerchr5:65961205..66064026hg19UCSC Ensembl
Innerchr5:65996961..66099782hg18UCSC Ensembl
Cytoband5q12.3
Allele length
AssemblyAllele length
hg38102822
hg19102822
hg18102822
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9829n54
Supporting Variantsnssv1034606
Samples
Known GenesMAST4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv598406
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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