A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5941236



Internal ID22716657
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:54414018..54417923hg38UCSC Ensembl
chr14:54880736..54884641hg19UCSC Ensembl
Cytoband14q22.2
Allele length
AssemblyAllele length
hg383906
hg193906
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17389420
Samples
Known GenesCDKN3
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5941236
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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