A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16930701



Internal ID21211
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:25782606..25782686hg38UCSC Ensembl
chr3:25824097..25824177hg19UCSC Ensembl
Cytoband3p24.2
Allele length
AssemblyAllele length
hg3881
hg1981
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5444157
Supporting Variants
Samples
Known GenesNGLY1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16930701
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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