A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16963469



Internal ID42971
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:2481894..2483904hg38UCSC Ensembl
chr5:2482008..2484018hg19UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg382011
hg192011
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5472769
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16963469
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