A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5701384



Internal ID21727705
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:86737586..86737586hg38UCSC Ensembl
chr8:87749814..87749814hg19UCSC Ensembl
Cytoband8q21.3
Allele length
AssemblyAllele length
hg3877
hg1977
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17184800, nssv17216558
Samples
Known GenesCNGB3
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)nsv5701384
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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