A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14315273



Internal ID22284282
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:94454226..94454226hg38UCSC Ensembl
chr4:95375377..95375377hg19UCSC Ensembl
Cytoband4q22.3
Allele length
AssemblyAllele length
hg38247
hg19247
Variant TypeCNV alu insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3563617
Supporting Variants
SamplesNA19239
Known GenesPDLIM5
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)nssv14315273
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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