A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5961133



Internal ID22736093
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:43545809..43551846hg38UCSC Ensembl
chr22:43941689..43947726hg19UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg386038
hg196038
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17400651
Samples
Known GenesEFCAB6
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5961133
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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