A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5515071



Internal ID291558
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:80588375..80633154hg38UCSC Ensembl
chr16:80622272..80667051hg19UCSC Ensembl
Cytoband16q23.2
Allele length
AssemblyAllele length
hg3844780
hg1944780
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17709761
Samples
Known GenesCDYL2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5515071
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