A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3221733



Internal ID22366013
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:71888180..71916966hg38UCSC Ensembl
Outerchr13:72462318..72491104hg19UCSC Ensembl
Cytoband13q21.33
Allele length
AssemblyAllele length
hg3828787
hg1928787
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14257121, nssv14257119, nssv14257120
SamplesNA19238, NA19239, HG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3221733
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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