A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5680894



Internal ID21707215
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:115878937..115878937hg38UCSC Ensembl
chr5:115214634..115214634hg19UCSC Ensembl
Cytoband5q23.1
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 Variantsnssv17177969, nssv17213308
Samples
Known GenesAP3S1
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)nsv5680894
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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