A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5521834



Internal ID298114
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:7620221..7624355hg38UCSC Ensembl
chr20:7600868..7605002hg19UCSC Ensembl
Cytoband20p12.3
Allele length
AssemblyAllele length
hg384135
hg194135
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17730678
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5521834
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