A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17207168



Internal ID21654677
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:2129427..2129427hg38UCSC Ensembl
chr3:2171111..2171111hg19UCSC Ensembl
Cytoband3p26.3
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5683122
Supporting Variants
Samples
Known GenesCNTN4, CNTN4-AS2
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)nssv17207168
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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