A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5686290



Internal ID21712611
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:82401420..82401420hg38UCSC Ensembl
chr4:83322573..83322573hg19UCSC Ensembl
Cytoband4q21.22
Allele length
AssemblyAllele length
hg38176
hg19176
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17211178, nssv17173395
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)nsv5686290
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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