A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3227084



Internal ID22369686
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:91242050..91256748hg38UCSC Ensembl
Outerchr13:91894304..91909002hg19UCSC Ensembl
Cytoband13q31.3
Allele length
AssemblyAllele length
hg3814699
hg1914699
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14257625
SamplesNA19238
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3227084
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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