A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5683230



Internal ID21709551
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:102569823..102569823hg38UCSC Ensembl
chr4:103490980..103490980hg19UCSC Ensembl
Cytoband4q24
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 Variantsnssv17173874
Samples
Known GenesNFKB1
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)nsv5683230
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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