A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5677064



Internal ID21703385
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:167684966..167684966hg38UCSC Ensembl
chr3:167402754..167402754hg19UCSC Ensembl
Cytoband3q26.1
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 Variantsnssv17217331, nssv17208484
Samples
Known GenesPDCD10
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)nsv5677064
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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