A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5685363



Internal ID21711684
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:70640032..70640032hg38UCSC Ensembl
chr4:71505749..71505749hg19UCSC Ensembl
Cytoband4q13.3
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17173328
Samples
Known GenesENAM
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)nsv5685363
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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