A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5996926



Internal ID21906269
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:22717371..22722624hg38UCSC Ensembl
chr4:22718994..22724247hg19UCSC Ensembl
Cytoband4p15.2
Allele length
AssemblyAllele length
hg385254
hg195254
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17541502
Samples
Known GenesGBA3
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5996926
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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