A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17696323



Internal ID119989
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:55077584..55083672hg38UCSC Ensembl
chr14:55544302..55550390hg19UCSC Ensembl
Cytoband14q22.3
Allele length
AssemblyAllele length
hg386089
hg196089
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5503892
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17696323
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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