A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5989189



Internal ID21898532
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 StatusM
Merged Variants
Supporting Variantsnssv17518809
Samples
Known GenesARHGEF33
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5989189
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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