A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5677414



Internal ID21703735
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:146074387..146074387hg38UCSC Ensembl
chr3:145792174..145792174hg19UCSC Ensembl
Cytoband3q24
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 Variantsnssv17214430, nssv17210055
Samples
Known GenesPLOD2
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)nsv5677414
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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