A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5710267



Internal ID21736588
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:100450605..100450605hg38UCSC Ensembl
chr8:101462833..101462833hg19UCSC Ensembl
Cytoband8q22.2
Allele length
AssemblyAllele length
hg38273
hg19273
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17185450
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)nsv5710267
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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