A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5532437



Internal ID308361
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:48921941..48922082hg38UCSC Ensembl
chr20:47538478..47538619hg19UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg38142
hg19142
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17732803
Samples
Known GenesARFGEF2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5532437
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