A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17026440



Internal ID85366
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:120054552..120060552hg38UCSC Ensembl
chr9:122816830..122822830hg19UCSC Ensembl
Cytoband9q33.2
Allele length
AssemblyAllele length
hg386001
hg196001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6142782
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17026440
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000473


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer