A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5705421



Internal ID21731742
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:52416495..52416495hg38UCSC Ensembl
chr13:52990630..52990630hg19UCSC Ensembl
Cytoband13q14.3
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17194516
Samples
Known GenesVPS36
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)nsv5705421
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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