A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3561013



Internal ID22429807
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:55478844..55478844hg38UCSC Ensembl
chr18:53146075..53146075hg19UCSC Ensembl
Cytoband18q21.2
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14284586, nssv14284587, nssv14284588
SamplesNA19238, HG00513, HG00514
Known GenesTCF4
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)nsv3561013
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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