A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5513393



Internal ID289919
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:73364298..73371358hg38UCSC Ensembl
chr14:73831006..73838066hg19UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg387061
hg197061
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17698283
Samples
Known GenesNUMB
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5513393
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