A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5678769



Internal ID21705090
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:141580583..141580583hg38UCSC Ensembl
chr4:142501736..142501736hg19UCSC Ensembl
Cytoband4q31.21
Allele length
AssemblyAllele length
hg38239
hg19239
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17209819, nssv17174661
Samples
Known Genes
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)nsv5678769
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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