A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5685276



Internal ID21711597
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:27919751..27919751hg38UCSC Ensembl
chr2:28142618..28142618hg19UCSC Ensembl
Cytoband2p23.2
Allele length
AssemblyAllele length
hg38273
hg19273
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17208037, nssv17199263
Samples
Known GenesBRE
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)nsv5685276
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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