A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5473852



Internal ID251533
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:172959080..172962674hg38UCSC Ensembl
chr5:172386083..172389677hg19UCSC Ensembl
Cytoband5q35.1
Allele length
AssemblyAllele length
hg383595
hg193595
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16978634
Samples
Known GenesLOC100268168, RPL26L1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5473852
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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