A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17699290



Internal ID122956
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:74365131..74366646hg38UCSC Ensembl
chr14:74831834..74833349hg19UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg381516
hg191516
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5504332
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17699290
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.002343


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