A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5682600



Internal ID21708921
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:25443247..25443247hg38UCSC Ensembl
chr6:25443475..25443475hg19UCSC Ensembl
Cytoband6p22.2
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 Variantsnssv17179500
Samples
Known GenesLRRC16A
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)nsv5682600
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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