A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5480972



Internal ID258468
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:83671426..83671650hg38UCSC Ensembl
chr9:86286341..86286565hg19UCSC Ensembl
Cytoband9q21.32
Allele length
AssemblyAllele length
hg38225
hg19225
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17025399
Samples
Known GenesUBQLN1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5480972
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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