A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5699167



Internal ID21725488
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:34291866..34291866hg38UCSC Ensembl
chr18:31871830..31871830hg19UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg38130
hg19130
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17201816
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)nsv5699167
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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