A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5680096



Internal ID21706417
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:23406563..23406563hg38UCSC Ensembl
chr4:23408186..23408186hg19UCSC Ensembl
Cytoband4p15.2
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17211786, nssv17230173
Samples
Known GenesMIR548AJ2
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)nsv5680096
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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