A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3287457



Internal ID22385860
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:89325035..89325183hg38UCSC Ensembl
chr15:89868266..89868414hg19UCSC Ensembl
Cytoband15q26.1
Allele length
AssemblyAllele length
hg38149
hg19149
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3019n152
Supporting Variantsnssv14405395
SamplesNA19240
Known GenesPOLG
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsSequences at least 70% masked by tandem repeat finder or contained within a tandem repeat
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3287457
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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