A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3216327



Internal ID22362353
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:48338505..48391850hg38UCSC Ensembl
Outerchr13:48912641..48965986hg19UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg3853346
hg1953346
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14256940
SamplesHG00513
Known GenesRB1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3216327
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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