A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3193366



Internal ID22343820
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:12528856..12528908hg38UCSC Ensembl
chr2:12668982..12669034hg19UCSC Ensembl
Cytoband2p24.3
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4491n152
Supporting Variantsnssv14406375, nssv14432563
SamplesNA19240, HG00514
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3193366
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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