A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5683053



Internal ID21709374
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:42872819..42872819hg38UCSC Ensembl
chr2:43099959..43099959hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg38111
hg19111
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17207892, nssv17199852
Samples
Known Genes
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)nsv5683053
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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