A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5694461



Internal ID21720782
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:79395715..79395715hg38UCSC Ensembl
chr12:79789495..79789495hg19UCSC Ensembl
Cytoband12q21.2
Allele length
AssemblyAllele length
hg38277
hg19277
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17193184, nssv17231554
Samples
Known GenesSYT1
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)nsv5694461
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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