A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5701268



Internal ID21727589
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:78189464..78189464hg38UCSC Ensembl
chr15:78481806..78481806hg19UCSC Ensembl
Cytoband15q25.1
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 Variantsnssv17197577, nssv17224704
Samples
Known GenesACSBG1
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)nsv5701268
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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