A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3563833



Internal ID22432569
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:134768608..134768608hg38UCSC Ensembl
chr5:134104298..134104298hg19UCSC Ensembl
Cytoband5q31.1
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 Variantsnssv14325034
SamplesNA19239
Known GenesDDX46
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)nsv3563833
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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