A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14430909



Internal ID22173253
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:89325035..89325233hg38UCSC Ensembl
chr15:89868266..89868464hg19UCSC Ensembl
Cytoband15q26.1
Allele length
AssemblyAllele length
hg38199
hg19199
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3287098
Supporting Variants
SamplesHG00514
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)nssv14430909
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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