A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3286393



Internal ID22384784
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:88652384..88652445hg38UCSC Ensembl
chr15:89195615..89195676hg19UCSC Ensembl
Cytoband15q26.1
Allele length
AssemblyAllele length
hg3862
hg1962
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14460282
SamplesHG00733
Known GenesISG20
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)nsv3286393
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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