A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5695265



Internal ID21721586
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:125011869..125011869hg38UCSC Ensembl
chr8:126024111..126024111hg19UCSC Ensembl
Cytoband8q24.13
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 Variantsnssv17185113, nssv17223911
Samples
Known GenesSQLE
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)nsv5695265
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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