A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3221340



Internal ID22365761
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:20265151..20268700hg38UCSC Ensembl
chr8:20122662..20126211hg19UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg383550
hg193550
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9096n152
Supporting Variantsnssv14437843
SamplesHG00514
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3221340
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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