A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5713096



Internal ID21739417
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:106964978..106964978hg38UCSC Ensembl
chr12:107358756..107358756hg19UCSC Ensembl
Cytoband12q23.3
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 Variantsnssv17193679
Samples
Known GenesC12orf23
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)nsv5713096
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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