A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5520722



Internal ID297039
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:4911449..4916460hg38UCSC Ensembl
chr16:4961450..4966461hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg385012
hg195012
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17704845
Samples
Known GenesPPL
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5520722
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