A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3285351



Internal ID22383729
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:88855508..88855622hg38UCSC Ensembl
chr15:89398739..89398853hg19UCSC Ensembl
Cytoband15q26.1
Allele length
AssemblyAllele length
hg38115
hg19115
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14430908
SamplesHG00514
Known GenesACAN
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)nsv3285351
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer