A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5503213



Internal ID280052
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:51911626..51912184hg38UCSC Ensembl
chr14:52378344..52378902hg19UCSC Ensembl
Cytoband14q22.1
Allele length
AssemblyAllele length
hg38559
hg19559
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17696197
Samples
Known GenesGNG2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5503213
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