A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17697178



Internal ID120844
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:90183637..90183992hg38UCSC Ensembl
chr14:90649981..90650336hg19UCSC Ensembl
Cytoband14q32.11
Allele length
AssemblyAllele length
hg38356
hg19356
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5513331
Supporting Variants
Samples
Known GenesKCNK13
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17697178
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