A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14294913



Internal ID22279318
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:167889451..167889451hg38UCSC Ensembl
chr1:167858689..167858689hg19UCSC Ensembl
Cytoband1q24.2
Allele length
AssemblyAllele length
hg38260
hg19260
Variant TypeCNV alu insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3561299
Supporting Variants
SamplesNA19239
Known GenesADCY10
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)nssv14294913
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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