A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17016488



Internal ID78651
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:128612222..128618222hg38UCSC Ensembl
chr8:129624468..129630468hg19UCSC Ensembl
Cytoband8q24.21
Allele length
AssemblyAllele length
hg386001
hg196001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5491365
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17016488
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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