A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3117588



Internal ID21300854
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:31488169..31491489hg38UCSC Ensembl
Innerchr22:31884155..31887475hg19UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg383321
hg193321
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv728n145
Supporting Variantsnssv14103569
Samplessample149
Known GenesEIF4ENIF1
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nsv3117588
Frequency
Sample Size467
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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