A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5533061



Internal ID308959
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:33064598..33075359hg38UCSC Ensembl
chr20:31652404..31663165hg19UCSC Ensembl
Cytoband20q11.21
Allele length
AssemblyAllele length
hg3810762
hg1910762
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17732000
Samples
Known GenesBPIFB3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5533061
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