A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5560736



Internal ID333735
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:33180687..33189808hg38UCSC Ensembl
chr20:31768493..31777614hg19UCSC Ensembl
Cytoband20q11.21
Allele length
AssemblyAllele length
hg389122
hg199122
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17732006
Samples
Known GenesBPIFA2
MethodSequencing
Analysis
Platform
Commentscomplex variant
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5560736
Frequency
Sample Size3202
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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