A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14367370



Internal ID22261753
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:24937876..24937876hg38UCSC Ensembl
chr13:25512014..25512014hg19UCSC Ensembl
Cytoband13q12.13
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3559939
Supporting Variants
SamplesNA19238
Known GenesTPTE2P1
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)nssv14367370
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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