A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5684817



Internal ID21711138
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:11032456..11032456hg38UCSC Ensembl
chr2:11172582..11172582hg19UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg38139
hg19139
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17196354
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)nsv5684817
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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