A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3110554



Internal ID21293820
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:231418915..231425490hg38UCSC Ensembl
Innerchr1:231554661..231561236hg19UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg386576
hg196576
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv119n145
Supporting Variantsnssv14091262
Samplessample296
Known GenesEGLN1
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nsv3110554
Frequency
Sample Size467
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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