A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17017426



Internal ID79265
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:117258687..117322816hg38UCSC Ensembl
chr8:118270926..118335055hg19UCSC Ensembl
Cytoband8q24.11
Allele length
AssemblyAllele length
hg3864130
hg1964130
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5486735
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17017426
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