A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5515816



Internal ID292290
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:13314000..13375000hg38UCSC Ensembl
chr16:13407857..13468857hg19UCSC Ensembl
Cytoband16p13.12
Allele length
AssemblyAllele length
hg3861001
hg1961001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17707932
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5515816
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