A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5695198



Internal ID21721519
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:42163318..42163318hg38UCSC Ensembl
chr8:42020836..42020836hg19UCSC Ensembl
Cytoband8p11.21
Allele length
AssemblyAllele length
hg38266
hg19266
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17184388
Samples
Known GenesAP3M2
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)nsv5695198
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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