A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5694533



Internal ID21720854
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:40385359..40385359hg38UCSC Ensembl
chr8:40242878..40242878hg19UCSC Ensembl
Cytoband8p11.21
Allele length
AssemblyAllele length
hg38199
hg19199
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17226373
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)nsv5694533
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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