A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv594483



Internal ID16381892
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:65720983..65763257hg38UCSC Ensembl
Innerchr4:66586701..66628975hg19UCSC Ensembl
Innerchr4:66269296..66311570hg18UCSC Ensembl
Cytoband4q13.1
Allele length
AssemblyAllele length
hg3842275
hg1942275
hg1842275
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9098n54
Supporting Variantsnssv1153145
Samples1780862517_A
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv594483
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