A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5696446



Internal ID21722767
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:65053806..65053806hg38UCSC Ensembl
chr15:65346144..65346144hg19UCSC Ensembl
Cytoband15q22.31
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17198123, nssv17230064
Samples
Known GenesRASL12
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)nsv5696446
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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