A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3221827



Internal ID22366083
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:58504698..58514350hg38UCSC Ensembl
Outerchr13:59078832..59088484hg19UCSC Ensembl
Cytoband13q21.1
Allele length
AssemblyAllele length
hg389653
hg199653
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14256922, nssv14256923
SamplesHG00512, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3221827
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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