A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5954971



Internal ID22730196
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:21850808..21855871hg38UCSC Ensembl
chr22:22205097..22210160hg19UCSC Ensembl
Cytoband22q11.22
Allele length
AssemblyAllele length
hg385064
hg195064
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17400296
Samples
Known GenesMAPK1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5954971
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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