A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17696047



Internal ID119713
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:72612916..72612966hg38UCSC Ensembl
chr14:73079624..73079674hg19UCSC Ensembl
Cytoband14q24.2
Allele length
AssemblyAllele length
hg3859
hg1959
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5545595
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17696047
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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