A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17400296



Internal ID22458166
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 StatusS
Merged Variantsnsv5954971
Supporting Variants
Samples
Known GenesMAPK1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17400296
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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