A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17191216



Internal ID21638725
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:69837018..69837018hg38UCSC Ensembl
chr11:69651786..69651786hg19UCSC Ensembl
Cytoband11q13.3
Allele length
AssemblyAllele length
hg38263
hg19263
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5710754
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)nssv17191216
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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