A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17201042



Internal ID21648551
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:31423729..31423729hg38UCSC Ensembl
chr21:32796042..32796042hg19UCSC Ensembl
Cytoband21q22.11
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5698174
Supporting Variants
Samples
Known GenesTIAM1
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)nssv17201042
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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