A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5699055



Internal ID21725376
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:108800808..108800808hg38UCSC Ensembl
chr8:109813037..109813037hg19UCSC Ensembl
Cytoband8q23.1
Allele length
AssemblyAllele length
hg38278
hg19278
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17184536, nssv17215763
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)nsv5699055
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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