A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17696290



Internal ID119956
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:54562164..54562215hg38UCSC Ensembl
chr14:55028882..55028933hg19UCSC Ensembl
Cytoband14q22.2
Allele length
AssemblyAllele length
hg38277
hg19277
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5420336
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17696290
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.003122


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