A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5712065



Internal ID21738386
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:58448235..58448235hg38UCSC Ensembl
chr12:58842018..58842018hg19UCSC Ensembl
Cytoband12q14.1
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17223413, nssv17192850
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)nsv5712065
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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