A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5490533



Internal ID267786
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:81065783..81065854hg38UCSC Ensembl
chr8:81978018..81978089hg19UCSC Ensembl
Cytoband8q21.13
Allele length
AssemblyAllele length
hg3872
hg1972
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17013404
Samples
Known GenesPAG1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5490533
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer