A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5684694



Internal ID21711015
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:169784017..169784017hg38UCSC Ensembl
chr3:169501805..169501805hg19UCSC Ensembl
Cytoband3q26.2
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 Variantsnssv17208509, nssv17231430
Samples
Known GenesMYNN
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)nsv5684694
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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