A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17191512



Internal ID21639021
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:103166394..103166394hg38UCSC Ensembl
chr11:103037123..103037123hg19UCSC Ensembl
Cytoband11q22.3
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5714146
Supporting Variants
Samples
Known GenesDYNC2H1
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)nssv17191512
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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