A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17052203



Internal ID102653
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:118990758..118992771hg38UCSC Ensembl
chr11:118861468..118863481hg19UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg382014
hg192014
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5510699
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17052203
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001562


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