A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5678473



Internal ID21704794
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:190928916..190928916hg38UCSC Ensembl
chr2:191793642..191793642hg19UCSC Ensembl
Cytoband2q32.2
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17209395, nssv17220564
Samples
Known GenesGLS
MethodSequencing
AnalysisMobile Element Locator Tool (MELT)
Platform
CommentsInsertion of a Alu mobile element relative to the reference
ReferenceChuang_et_al_2021
Pubmed ID34772701
Accession Number(s)nsv5678473
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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