A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv595423



Internal ID16382832
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:130994430..131407059hg38UCSC Ensembl
Innerchr4:131915585..132328214hg19UCSC Ensembl
Innerchr4:132135035..132547664hg18UCSC Ensembl
Cytoband4q28.3
Allele length
AssemblyAllele length
hg38412630
hg19412630
hg18412630
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9266n54
Supporting Variantsnssv1006490
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv595423
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