A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5689540



Internal ID21715861
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:161879645..161879645hg38UCSC Ensembl
chr5:161306651..161306651hg19UCSC Ensembl
Cytoband5q34
Allele length
AssemblyAllele length
hg38242
hg19242
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17177580, nssv17228378
Samples
Known GenesGABRA1
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)nsv5689540
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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