A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5527154



Internal ID303259
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:37058518..37074433hg38UCSC Ensembl
chr20:35686921..35702836hg19UCSC Ensembl
Cytoband20q11.23
Allele length
AssemblyAllele length
hg3815916
hg1915916
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17732241
Samples
Known GenesRBL1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5527154
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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