A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5694262



Internal ID21720583
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:69032987..69032987hg38UCSC Ensembl
chr2:69260119..69260119hg19UCSC Ensembl
Cytoband2p13.3
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17204658
Samples
Known GenesANTXR1
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)nsv5694262
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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