A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17009113



Internal ID73713
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:19911946..20226032hg38UCSC Ensembl
chr8:19769457..20083543hg19UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg38314087
hg19314087
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5481561
Supporting Variants
Samples
Known GenesATP6V1B2, LPL, SLC18A1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17009113
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