A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5683239



Internal ID21709560
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:38997236..38997236hg38UCSC Ensembl
chr2:39224377..39224377hg19UCSC Ensembl
Cytoband2p22.1
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17199699
Samples
Known GenesSOS1
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)nsv5683239
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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