A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5692606



Internal ID21718927
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:62224349..62224349hg38UCSC Ensembl
chr2:62451484..62451484hg19UCSC Ensembl
Cytoband2p15
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 Variantsnssv17208158, nssv17203427
Samples
Known GenesB3GNT2
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)nsv5692606
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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