A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5692478



Internal ID21718799
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:139648131..139648131hg38UCSC Ensembl
chr4:140569285..140569285hg19UCSC Ensembl
Cytoband4q31.1
Allele length
AssemblyAllele length
hg38272
hg19272
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17174639, nssv17209808
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)nsv5692478
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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