A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5714320



Internal ID21740641
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:80188943..80188943hg38UCSC Ensembl
chr8:81101178..81101178hg19UCSC Ensembl
Cytoband8q21.13
Allele length
AssemblyAllele length
hg38265
hg19265
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17184939
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)nsv5714320
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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