A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16978634



Internal ID53126
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 StatusS
Merged Variantsnsv5473852
Supporting Variants
Samples
Known GenesLOC100268168, RPL26L1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16978634
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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