A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5699502



Internal ID21725823
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:18730951..18730951hg38UCSC Ensembl
chr12:18883885..18883885hg19UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg38218
hg19218
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17225109, nssv17192387
Samples
Known GenesPLCZ1
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)nsv5699502
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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