A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3111327



Internal ID21294593
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:49790654..49791786hg38UCSC Ensembl
Innerchr13:50364790..50365922hg19UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg381133
hg191133
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14095754
Samplessample224
Known GenesKPNA3
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nsv3111327
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