A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5686424



Internal ID21712745
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:168867993..168867993hg38UCSC Ensembl
chr4:169789144..169789144hg19UCSC Ensembl
Cytoband4q32.3
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 Variantsnssv17209901, nssv17174937
Samples
Known GenesPALLD
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)nsv5686424
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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