A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5482266



Internal ID259724
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:116539340..116541388hg38UCSC Ensembl
chr8:117551578..117553626hg19UCSC Ensembl
Cytoband8q23.3
Allele length
AssemblyAllele length
hg382049
hg192049
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17017368
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5482266
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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