A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17693479



Internal ID117145
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:25112545..25112545hg38UCSC Ensembl
chr14:25581751..25581751hg19UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg38306
hg19306
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5421631
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17693479
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.38791


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