A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5516614



Internal ID293065
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:48936620..48939531hg38UCSC Ensembl
chr20:47553157..47556068hg19UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg382912
hg192912
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17732805
Samples
Known GenesARFGEF2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5516614
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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