A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5682589



Internal ID21708910
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:112221694..112221694hg38UCSC Ensembl
chr6:112542895..112542895hg19UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg38231
hg19231
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17179614, nssv17217449
Samples
Known GenesLAMA4
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)nsv5682589
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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