A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5686636



Internal ID21712957
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:175238069..175238069hg38UCSC Ensembl
chr3:174955859..174955859hg19UCSC Ensembl
Cytoband3q26.31
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 Variantsnssv17225047
Samples
Known GenesNAALADL2
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)nsv5686636
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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