A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5678295



Internal ID21704616
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:94454226..94454226hg38UCSC Ensembl
chr4:95375377..95375377hg19UCSC Ensembl
Cytoband4q22.3
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17174487, nssv17212394
Samples
Known GenesPDLIM5
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)nsv5678295
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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