A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3559939



Internal ID22428734
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14367372, nssv14367371, nssv14367367, nssv14367369, nssv14367368, nssv14367370
SamplesHG00512, NA19238, NA19239, NA19240, HG00513, HG00514
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)nsv3559939
Frequency
Sample Size9
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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