A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16928315



Internal ID19577
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:221505293..221537351hg38UCSC Ensembl
chr2:222370013..222402071hg19UCSC Ensembl
Cytoband2q36.1
Allele length
AssemblyAllele length
hg3832059
hg1932059
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5446510
Supporting Variants
Samples
Known GenesEPHA4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16928315
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000468


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