A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5695033



Internal ID21721354
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:9107332..9107332hg38UCSC Ensembl
chr8:8964842..8964842hg19UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38245
hg19245
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17183388
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)nsv5695033
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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