A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3288137



Internal ID22386548
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:98214156..98214296hg38UCSC Ensembl
chr9:100976438..100976578hg19UCSC Ensembl
Cytoband9q22.33
Allele length
AssemblyAllele length
hg38141
hg19141
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14387933
SamplesNA19240
Known GenesTBC1D2
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)nsv3288137
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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