A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5986379



Internal ID21895722
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:130943622..130944299hg38UCSC Ensembl
chr2:131701195..131701872hg19UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg38678
hg19678
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17520627
Samples
Known GenesARHGEF4
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5986379
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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