A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5481779



Internal ID259248
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:80540247..80556257hg38UCSC Ensembl
chr8:81452482..81468492hg19UCSC Ensembl
Cytoband8q21.13
Allele length
AssemblyAllele length
hg3816011
hg1916011
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17013358
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5481779
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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