A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17696411



Internal ID120077
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:56818091..56818629hg38UCSC Ensembl
chr14:57284809..57285347hg19UCSC Ensembl
Cytoband14q22.3
Allele length
AssemblyAllele length
hg38539
hg19539
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5502585
Supporting Variants
Samples
Known GenesOTX2-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17696411
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000937


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