A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17698015



Internal ID121681
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:49093713..49100713hg38UCSC Ensembl
chr14:49560431..49567431hg19UCSC Ensembl
Cytoband14q21.3
Allele length
AssemblyAllele length
hg387001
hg197001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5509840
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17698015
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000468


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