A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5711009



Internal ID21737330
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:34029541..34029541hg38UCSC Ensembl
chr15:34321742..34321742hg19UCSC Ensembl
Cytoband15q14
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 Variantsnssv17196739
Samples
Known GenesAVEN, CHRM5
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)nsv5711009
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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