A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5708255



Internal ID21734576
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:48785930..48785930hg38UCSC Ensembl
chr8:49698489..49698489hg19UCSC Ensembl
Cytoband8q11.21
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 Variantsnssv17184662, nssv17217873
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)nsv5708255
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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