A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14309355



Internal ID22120927
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:122726900..122726900hg38UCSC Ensembl
chr3:122445747..122445747hg19UCSC Ensembl
Cytoband3q21.1
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3562730
Supporting Variants
SamplesHG00512
Known GenesPARP14
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)nssv14309355
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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