A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16930699



Internal ID21210
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:25764593..25764672hg38UCSC Ensembl
chr3:25806084..25806163hg19UCSC Ensembl
Cytoband3p24.2
Allele length
AssemblyAllele length
hg3880
hg1980
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5448804
Supporting Variants
Samples
Known GenesNGLY1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16930699
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.002029


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