A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5519487



Internal ID295835
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:31326014..31405175hg38UCSC Ensembl
chr16:31337335..31416496hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg3879162
hg1979162
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17707289
Samples
Known GenesITGAD, ITGAM, ITGAX
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5519487
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