A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5682473



Internal ID21708794
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:157375030..157375030hg38UCSC Ensembl
chr6:157796062..157796062hg19UCSC Ensembl
Cytoband6q25.3
Allele length
AssemblyAllele length
hg38130
hg19130
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17231240, nssv17181201
Samples
Known Genes
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)nsv5682473
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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