A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5702336



Internal ID21728657
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:38593653..38593653hg38UCSC Ensembl
chr8:38451171..38451171hg19UCSC Ensembl
Cytoband8p11.22
Allele length
AssemblyAllele length
hg3880
hg1980
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17226336, nssv17184342
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)nsv5702336
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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