A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17698291



Internal ID121957
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:73438637..73444637hg38UCSC Ensembl
chr14:73905345..73911345hg19UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg386001
hg196001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5509058
Supporting Variants
Samples
Known GenesNUMB
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17698291
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