A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv593207



Internal ID16380616
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:635648..651511hg38UCSC Ensembl
Innerchr4:629437..645300hg19UCSC Ensembl
Innerchr4:619437..635300hg18UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg3815864
hg1915864
hg1815864
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv987411
Samples
Known GenesPDE6B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv593207
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