A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5684397



Internal ID21710718
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:36701038..36701038hg38UCSC Ensembl
chr2:36928181..36928181hg19UCSC Ensembl
Cytoband2p22.2
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 Variantsnssv17198637, nssv17208130
Samples
Known GenesVIT
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)nsv5684397
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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