A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14425483



Internal ID22165402
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:18570046..18570046hg38UCSC Ensembl
chr5:18570155..18570155hg19UCSC Ensembl
Cytoband5p14.3
Allele length
AssemblyAllele length
hg38315
hg19315
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3520743
Supporting Variants
SamplesHG00514
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsInsertion of a AluY mobile element relative to the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14425483
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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