A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5695192



Internal ID21721513
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:79681342..79681342hg38UCSC Ensembl
chr9:82296257..82296257hg19UCSC Ensembl
Cytoband9q21.31
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 Variantsnssv17186701, nssv17222749
Samples
Known GenesTLE4
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)nsv5695192
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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