A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17190531



Internal ID21638040
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:81214140..81214140hg38UCSC Ensembl
chr11:80925183..80925183hg19UCSC Ensembl
Cytoband11q14.1
Allele length
AssemblyAllele length
hg38278
hg19278
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5694884
Supporting Variants
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)nssv17190531
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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