A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14294705



Internal ID22119241
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:165690069..165690069hg38UCSC Ensembl
chr1:165659306..165659306hg19UCSC Ensembl
Cytoband1q24.1
Allele length
AssemblyAllele length
hg38254
hg19254
Variant TypeCNV alu insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3561297
Supporting Variants
SamplesHG00512
Known GenesALDH9A1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
CommentsInsertion of a Alu mobile element relative to the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14294705
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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