A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16967426



Internal ID45589
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:69537796..69537851hg38UCSC Ensembl
chr5:68833623..68833678hg19UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg3856
hg1956
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5462974
Supporting Variants
Samples
Known GenesOCLN
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16967426
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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