A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3563753



Internal ID22432489
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:25845708..25845708hg38UCSC Ensembl
chr4:25847330..25847330hg19UCSC Ensembl
Cytoband4p15.2
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 Variantsnssv14311950
SamplesHG00513
Known GenesSEL1L3
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)nsv3563753
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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