A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5682083



Internal ID21708404
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:76867212..76867212hg38UCSC Ensembl
chr5:76163037..76163037hg19UCSC Ensembl
Cytoband5q13.3
Allele length
AssemblyAllele length
hg38268
hg19268
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17178036
Samples
Known GenesS100Z
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)nsv5682083
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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