A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3226614



Internal ID22369354
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:64762979..64830460hg38UCSC Ensembl
Outerchr13:65337111..65404592hg19UCSC Ensembl
Cytoband13q21.31
Allele length
AssemblyAllele length
hg3867482
hg1967482
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14256537, nssv14256536
SamplesHG00732, HG00733
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3226614
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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