A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14322357



Internal ID22206024
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:59804553..59804553hg38UCSC Ensembl
chr5:59100379..59100379hg19UCSC Ensembl
Cytoband5q12.1
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3564222
Supporting Variants
SamplesHG00732
Known GenesPDE4D
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)nssv14322357
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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