A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17698694



Internal ID122360
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:96449683..96452614hg38UCSC Ensembl
chr14:96916020..96918951hg19UCSC Ensembl
Cytoband14q32.2
Allele length
AssemblyAllele length
hg382932
hg192932
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5501123
Supporting Variants
Samples
Known GenesAK7
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17698694
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