A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5682811



Internal ID21709132
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:122136352..122136352hg38UCSC Ensembl
chr5:121472047..121472047hg19UCSC Ensembl
Cytoband5q23.2
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17177460, nssv17217343
Samples
Known GenesZNF474
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)nsv5682811
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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