A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17175370



Internal ID21622879
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:11348672..11348672hg38UCSC Ensembl
chr5:11348784..11348784hg19UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg38150
hg19150
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)nssv17175370
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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