A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5460943



Internal ID238909
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:67285044..67305731hg38UCSC Ensembl
chr5:66580872..66601559hg19UCSC Ensembl
Cytoband5q12.3
Allele length
AssemblyAllele length
hg3820688
hg1920688
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16966172
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5460943
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