A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5710728



Internal ID21737049
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:86041514..86041514hg38UCSC Ensembl
chr8:87053743..87053743hg19UCSC Ensembl
Cytoband8q21.3
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 Variantsnssv17216240, nssv17184783
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)nsv5710728
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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