A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14393190



Internal ID22308182
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:18116838..18116838hg38UCSC Ensembl
chr19:18227648..18227648hg19UCSC Ensembl
Cytoband19p13.11
Allele length
AssemblyAllele length
hg38353
hg19353
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3522683
Supporting Variants
SamplesNA19240
Known GenesMAST3
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsInsertion of a AluS mobile element relative to the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14393190
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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