A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5554350



Internal ID327540
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:59117701..59119951hg38UCSC Ensembl
chr8:60030260..60032510hg19UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg382251
hg192251
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17012465
Samples
Known GenesTOX
MethodSequencing
Analysis
Platform
Commentscomplex variant
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5554350
Frequency
Sample Size3202
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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