A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5452392



Internal ID230547
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:121683917..121683982hg38UCSC Ensembl
chr3:121402764..121402829hg19UCSC Ensembl
Cytoband3q13.33
Allele length
AssemblyAllele length
hg3866
hg1966
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16936585
Samples
Known GenesGOLGB1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5452392
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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