A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17205758



Internal ID21653267
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:32867502..32867502hg38UCSC Ensembl
chr1:33333103..33333103hg19UCSC Ensembl
Cytoband1p35.1
Allele length
AssemblyAllele length
hg38271
hg19271
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5685727
Supporting Variants
Samples
Known GenesFNDC5
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)nssv17205758
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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