A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5429964



Internal ID208793
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:97092126..97092177hg38UCSC Ensembl
chr14:97558463..97558514hg19UCSC Ensembl
Cytoband14q32.2
Allele length
AssemblyAllele length
hg3876
hg1976
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17698721
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5429964
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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