A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17190201



Internal ID21637710
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:84977472..84977472hg38UCSC Ensembl
chr11:84688516..84688516hg19UCSC Ensembl
Cytoband11q14.1
Allele length
AssemblyAllele length
hg38258
hg19258
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5695016
Supporting Variants
Samples
Known GenesDLG2
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)nssv17190201
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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