A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5469122



Internal ID246913
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:69002617..69023966hg38UCSC Ensembl
chr5:68298444..68319793hg19UCSC Ensembl
Cytoband5q13.1
Allele length
AssemblyAllele length
hg3821350
hg1921350
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16967357
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5469122
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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