A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5714036



Internal ID21740357
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:7138283..7138283hg38UCSC Ensembl
chr12:7290879..7290879hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38276
hg19276
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17191694
Samples
Known GenesCLSTN3
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)nsv5714036
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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