A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5684277



Internal ID21710598
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:8063985..8063985hg38UCSC Ensembl
chr2:8204115..8204115hg19UCSC Ensembl
Cytoband2p25.1
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 Variantsnssv17205863, nssv17196254
Samples
Known GenesLINC00299
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)nsv5684277
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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