A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5682870



Internal ID21709191
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:136660982..136660982hg38UCSC Ensembl
chr6:136982120..136982120hg19UCSC Ensembl
Cytoband6q23.3
Allele length
AssemblyAllele length
hg38223
hg19223
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17179736, nssv17230651
Samples
Known GenesMAP3K5
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)nsv5682870
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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