A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5680554



Internal ID21706875
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:63066179..63066179hg38UCSC Ensembl
chr2:63293314..63293314hg19UCSC Ensembl
Cytoband2p15
Allele length
AssemblyAllele length
hg38239
hg19239
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17205596
Samples
Known Genes
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)nsv5680554
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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