A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5676481



Internal ID21702802
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:94191269..94191269hg38UCSC Ensembl
chr9:42817063..42817063hg19UCSC Ensembl
Cytoband9p12
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 Variantsnssv17207588, nssv17209518
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)nsv5676481
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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