A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5696840



Internal ID21723161
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:42710080..42710080hg38UCSC Ensembl
chr12:43103882..43103882hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg38122
hg19122
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17192220
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)nsv5696840
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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