A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5538582



Internal ID313653
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:37419640..37420297hg38UCSC Ensembl
chr22:37815679..37816336hg19UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg38658
hg19658
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17728832
Samples
Known GenesELFN2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5538582
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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