A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5502478



Internal ID279342
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:80286966..80288238hg38UCSC Ensembl
chr14:80753309..80754581hg19UCSC Ensembl
Cytoband14q31.1
Allele length
AssemblyAllele length
hg381273
hg191273
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17698976
Samples
Known GenesDIO2-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5502478
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