A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17174052



Internal ID21621561
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:109918271..109918271hg38UCSC Ensembl
chr4:110839427..110839427hg19UCSC Ensembl
Cytoband4q25
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5675765
Supporting Variants
Samples
Known GenesEGF
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)nssv17174052
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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