A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5681173



Internal ID21707494
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:128280269..128280269hg38UCSC Ensembl
chr4:129201424..129201424hg19UCSC Ensembl
Cytoband4q28.2
Allele length
AssemblyAllele length
hg38275
hg19275
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17209765, nssv17174106
Samples
Known GenesPGRMC2
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)nsv5681173
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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