A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5496667



Internal ID273738
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:70580458..70582572hg38UCSC Ensembl
chr14:71047175..71049289hg19UCSC Ensembl
Cytoband14q24.2
Allele length
AssemblyAllele length
hg382115
hg192115
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17696435
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5496667
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