A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5692224



Internal ID21718545
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:233585862..233585862hg38UCSC Ensembl
chr2:234494508..234494508hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg3870
hg1970
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17229621, nssv17210260
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)nsv5692224
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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