A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16966495



Internal ID44991
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:58739322..58746700hg38UCSC Ensembl
chr5:58035149..58042527hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg387379
hg197379
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5454661
Supporting Variants
Samples
Known GenesRAB3C
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16966495
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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