A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv598255



Internal ID16385664
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:59534319..59583996hg38UCSC Ensembl
Innerchr5:58830145..58879822hg19UCSC Ensembl
Innerchr5:58865902..58915579hg18UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg3849678
hg1949678
hg1849678
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1033358
Samples
Known GenesPDE4D
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv598255
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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