A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3279980



Internal ID22378287
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:194348284..194348336hg38UCSC Ensembl
chr3:194069013..194069065hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14462230, nssv14435390
SamplesHG00733, HG00514
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)nsv3279980
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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