A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3563282



Internal ID22432020
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:37320111..37320111hg38UCSC Ensembl
chr3:37361602..37361602hg19UCSC Ensembl
Cytoband3p22.2
Allele length
AssemblyAllele length
hg38118
hg19118
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14305977
SamplesHG00513
Known GenesGOLGA4
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)nsv3563282
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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