A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5690598



Internal ID21716919
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:146096671..146096671hg38UCSC Ensembl
chr5:145476234..145476234hg19UCSC Ensembl
Cytoband5q32
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 Variantsnssv17179268, nssv17214328
Samples
Known GenesPLAC8L1
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)nsv5690598
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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