A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17027991



Internal ID86354
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:125940816..125940932hg38UCSC Ensembl
chr9:128703095..128703211hg19UCSC Ensembl
Cytoband9q33.3
Allele length
AssemblyAllele length
hg38117
hg19117
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5484027
Supporting Variants
Samples
Known GenesPBX3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17027991
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