A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17017544



Internal ID79344
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:122343993..122345445hg38UCSC Ensembl
chr8:123356232..123357684hg19UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg381453
hg191453
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5484311
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17017544
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