A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17212022



Internal ID21659531
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:11348672..11348672hg38UCSC Ensembl
chr5:11348784..11348784hg19UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg38149
hg19149
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5681245
Supporting Variants
Samples
Known GenesCTNND2
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)nssv17212022
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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