A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17205701



Internal ID21653210
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:22883659..22883659hg38UCSC Ensembl
chr1:23210152..23210152hg19UCSC Ensembl
Cytoband1p36.12
Allele length
AssemblyAllele length
hg38235
hg19235
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5682537
Supporting Variants
Samples
Known GenesEPHB2
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)nssv17205701
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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