A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3282033



Internal ID22380363
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:194348183..194348336hg38UCSC Ensembl
chr3:194068912..194069065hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38154
hg19154
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14409036
SamplesNA19240
Known GenesCPN2
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)nsv3282033
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