A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5675549



Internal ID21701870
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:146301033..146301033hg38UCSC Ensembl
chr6:146622169..146622169hg19UCSC Ensembl
Cytoband6q24.3
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17225752, nssv17180839
Samples
Known GenesGRM1
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)nsv5675549
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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