A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5516873



Internal ID293320
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:4714895..4716229hg38UCSC Ensembl
chr16:4764896..4766230hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg381335
hg191335
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17704825
Samples
Known GenesANKS3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5516873
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