A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5516079



Internal ID292545
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:67996545..68001608hg38UCSC Ensembl
chr16:68030448..68035511hg19UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg385064
hg195064
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17707544
Samples
Known GenesDPEP2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5516079
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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