A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5504636



Internal ID281435
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:69134388..69135473hg38UCSC Ensembl
chr14:69601105..69602190hg19UCSC Ensembl
Cytoband14q24.1
Allele length
AssemblyAllele length
hg381086
hg191086
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17697823
Samples
Known GenesDCAF5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5504636
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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