A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5693457



Internal ID21719778
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:36531765..36531765hg38UCSC Ensembl
chr3:36573257..36573257hg19UCSC Ensembl
Cytoband3p22.2
Allele length
AssemblyAllele length
hg38192
hg19192
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17224915, nssv17207262
Samples
Known GenesSTAC
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)nsv5693457
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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