A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17173897



Internal ID21621406
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:112298160..112298160hg38UCSC Ensembl
chr4:113219316..113219316hg19UCSC Ensembl
Cytoband4q25
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5679399
Supporting Variants
Samples
Known GenesALPK1
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)nssv17173897
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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