A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5682019



Internal ID21708340
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:67952739..67952739hg38UCSC Ensembl
chr1:68418422..68418422hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg38141
hg19141
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17218782
Samples
Known GenesGNG12-AS1
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)nsv5682019
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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