A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5474489



Internal ID252148
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:30754046..30757443hg38UCSC Ensembl
chr8:30611563..30614960hg19UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg383398
hg193398
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17011231
Samples
Known GenesUBXN8
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5474489
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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