A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5708204



Internal ID21734525
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:85447165..85447165hg38UCSC Ensembl
chr8:86359394..86359394hg19UCSC Ensembl
Cytoband8q21.2
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17184778, nssv17228237
Samples
Known GenesCA3
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)nsv5708204
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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