A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17518809



Internal ID21843168
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:38936862..38936931hg38UCSC Ensembl
chr2:39164003..39164072hg19UCSC Ensembl
Cytoband2p22.1
Allele length
AssemblyAllele length
hg3870
hg1970
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5989189
Supporting Variants
Samples
Known GenesARHGEF33
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nssv17518809
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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