A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5513671



Internal ID290188
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:93731212..93731280hg38UCSC Ensembl
chr14:94197558..94197626hg19UCSC Ensembl
Cytoband14q32.12
Allele length
AssemblyAllele length
hg3869
hg1969
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17699533
Samples
Known GenesPRIMA1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5513671
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