A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17520627



Internal ID21844986
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 StatusS
Merged Variantsnsv5986379
Supporting Variants
Samples
Known GenesARHGEF4
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nssv17520627
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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