A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv593766



Internal ID16381175
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:15002656..15004728hg38UCSC Ensembl
Innerchr4:15004280..15006352hg19UCSC Ensembl
Innerchr4:14613378..14615450hg18UCSC Ensembl
Cytoband4p15.33
Allele length
AssemblyAllele length
hg382073
hg192073
hg182073
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8976n54
Supporting Variantsnssv993094, nssv993093
Samples
Known GenesCPEB2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv593766
Frequency
Sample Size17421
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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