A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14315084



Internal ID22265901
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:128286093..128286093hg38UCSC Ensembl
chr4:129207248..129207248hg19UCSC Ensembl
Cytoband4q28.2
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3563690
Supporting Variants
SamplesNA19238
Known GenesPGRMC2
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)nssv14315084
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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