A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5533403



Internal ID309293
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:50173960..50176773hg38UCSC Ensembl
chr16:50207871..50210684hg19UCSC Ensembl
Cytoband16q12.1
Allele length
AssemblyAllele length
hg382814
hg192814
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17708955
Samples
Known GenesPAPD5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5533403
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