A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17010130



Internal ID74390
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:28168810..28168861hg38UCSC Ensembl
chr8:28026327..28026378hg19UCSC Ensembl
Cytoband8p21.1
Allele length
AssemblyAllele length
hg38247
hg19247
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5403153
Supporting Variants
Samples
Known GenesELP3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17010130
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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