A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5470546



Internal ID248302
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:107405728..107406601hg38UCSC Ensembl
chr5:106741429..106742302hg19UCSC Ensembl
Cytoband5q21.3
Allele length
AssemblyAllele length
hg38874
hg19874
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16972219
Samples
Known GenesEFNA5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5470546
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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