A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3563025



Internal ID22431767
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:39289632..39289632hg38UCSC Ensembl
chr3:39331123..39331123hg19UCSC Ensembl
Cytoband3p22.2
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 Variantsnssv14306035, nssv14306036
SamplesNA19239, NA19240
Known Genes
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)nsv3563025
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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