A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3213403



Internal ID22360365
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:38471699..38488723hg38UCSC Ensembl
Outerchr13:39045836..39062860hg19UCSC Ensembl
Cytoband13q13.3
Allele length
AssemblyAllele length
hg3817025
hg1917025
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14257054, nssv14257058, nssv14257057, nssv14257055, nssv14257056
SamplesNA19238, HG00731, HG00732, HG00733, HG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3213403
Frequency
Sample Size9
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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