A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17184996



Internal ID21632505
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:186966971..186966971hg38UCSC Ensembl
chr1:186936103..186936103hg19UCSC Ensembl
Cytoband1q31.1
Allele length
AssemblyAllele length
hg38232
hg19232
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5675277
Supporting Variants
Samples
Known GenesPLA2G4A
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)nssv17184996
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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