A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14344941



Internal ID22253154
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:125011869..125011869hg38UCSC Ensembl
chr8:126024111..126024111hg19UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3564933
Supporting Variants
SamplesNA19238
Known GenesSQLE
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)nssv14344941
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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