A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3562729



Internal ID22431475
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:120285820..120285820hg38UCSC Ensembl
chr3:120004667..120004667hg19UCSC Ensembl
Cytoband3q13.33
Allele length
AssemblyAllele length
hg38685
hg19685
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14309306
SamplesHG00732
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
CommentsInsertion of a L1 mobile element relative to the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3562729
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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