A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3116373



Internal ID21299639
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:154032543..154151691hg38UCSC Ensembl
Innerchr5:153412103..153531251hg19UCSC Ensembl
Cytoband5q33.2
Allele length
AssemblyAllele length
hg38119149
hg19119149
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14082633
Samplessample386
Known GenesFAM114A2, MFAP3
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nsv3116373
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