A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5485482



Internal ID262871
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:116468638..116468758hg38UCSC Ensembl
chr8:117480876..117480996hg19UCSC Ensembl
Cytoband8q23.3
Allele length
AssemblyAllele length
hg38121
hg19121
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17017362
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5485482
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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