A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17019663



Internal ID80748
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:6487570..6521838hg38UCSC Ensembl
chr9:6487570..6521838hg19UCSC Ensembl
Cytoband9p24.1
Allele length
AssemblyAllele length
hg3834269
hg1934269
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5485377
Supporting Variants
Samples
Known GenesUHRF2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17019663
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