A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5463486



Internal ID241389
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:56122783..56124641hg38UCSC Ensembl
chr5:55418610..55420468hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg381859
hg191859
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16965501
Samples
Known GenesANKRD55
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5463486
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