A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv596382



Internal ID16383791
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:185520705..185527215hg38UCSC Ensembl
Innerchr4:186441859..186448369hg19UCSC Ensembl
Innerchr4:186678853..186685363hg18UCSC Ensembl
Cytoband4q35.1
Allele length
AssemblyAllele length
hg386511
hg196511
hg186511
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1019520
Samples
Known GenesPDLIM3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv596382
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