A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6052120



Internal ID21961353
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:43784592..43784721hg38UCSC Ensembl
chr22:44180472..44180601hg19UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg38130
hg19130
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17645525
Samples
Known GenesEFCAB6
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6052120
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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