A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3113146



Internal ID21296412
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:79403729..79643741hg38UCSC Ensembl
Innerchr6:80113446..80353458hg19UCSC Ensembl
Cytoband6q14.1
Allele length
AssemblyAllele length
hg38240013
hg19240013
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14084480
Samplessample97
Known GenesLCA5, SH3BGRL2
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nsv3113146
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