A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17217088



Internal ID21664597
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:63522812..63522812hg38UCSC Ensembl
chr1:63988483..63988483hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5686494
Supporting Variants
Samples
Known GenesITGB3BP
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)nssv17217088
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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