A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14445708



Internal ID22241532
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:39484361..39484361hg38UCSC Ensembl
chr15:39776562..39776562hg19UCSC Ensembl
Cytoband15q14
Allele length
AssemblyAllele length
hg38326
hg19326
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3521701
Supporting Variants
SamplesHG00733
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)nssv14445708
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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