A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5697223



Internal ID21723544
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:17214583..17214583hg38UCSC Ensembl
chr11:17236130..17236130hg19UCSC Ensembl
Cytoband11p15.1
Allele length
AssemblyAllele length
hg38205
hg19205
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17226451, nssv17190413
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)nsv5697223
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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