A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5987113



Internal ID21896456
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:188154343..188204540hg38UCSC Ensembl
chr2:189019070..189069267hg19UCSC Ensembl
Cytoband2q32.1
Allele length
AssemblyAllele length
hg3850198
hg1950198
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17529066
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5987113
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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