A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6055423



Internal ID21964656
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:24288952..24292309hg38UCSC Ensembl
chr22:24684920..24688277hg19UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg383358
hg193358
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17639540
Samples
Known GenesSPECC1L, SPECC1L-ADORA2A
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6055423
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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