A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17178725



Internal ID21626234
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:20435083..20435083hg38UCSC Ensembl
chr6:20435314..20435314hg19UCSC Ensembl
Cytoband6p22.3
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5684199
Supporting Variants
Samples
Known GenesE2F3
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)nssv17178725
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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