A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5708061



Internal ID21734382
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:118455328..118455328hg38UCSC Ensembl
chr9:121217606..121217606hg19UCSC Ensembl
Cytoband9q33.1
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 Variantsnssv17187591, nssv17230630
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)nsv5708061
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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