A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3227134



Internal ID22369726
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:33548472..33568869hg38UCSC Ensembl
Outerchr13:34122609..34143006hg19UCSC Ensembl
Cytoband13q13.2
Allele length
AssemblyAllele length
hg3820398
hg1920398
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14256885
SamplesNA19239
Known GenesSTARD13
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3227134
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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