A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5704699



Internal ID21731020
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:23778231..23778231hg38UCSC Ensembl
chr9:23778229..23778229hg19UCSC Ensembl
Cytoband9p21.3
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 Variantsnssv17186088
Samples
Known GenesELAVL2
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)nsv5704699
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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