A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1003362



Internal ID15950632
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:94333579..94572095hg38UCSC Ensembl
Innerchr4:95254730..95493246hg19UCSC Ensembl
Innerchr4:95473753..95712269hg18UCSC Ensembl
Cytoband4q22.3
Allele length
AssemblyAllele length
hg38238517
hg19238517
hg18238517
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv594901
Supporting Variants
Samples
Known GenesHPGDS, PDLIM5
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1003362
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