A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3229999



Internal ID22371663
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:65117857..65177785hg38UCSC Ensembl
Outerchr13:65691989..65751917hg19UCSC Ensembl
Cytoband13q21.31
Allele length
AssemblyAllele length
hg3859929
hg1959929
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14256895
SamplesNA19239
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3229999
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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