A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3215377



Internal ID22361731
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:28898408..28911407hg38UCSC Ensembl
Outerchr13:29472545..29485544hg19UCSC Ensembl
Cytoband13q12.3
Allele length
AssemblyAllele length
hg3813000
hg1913000
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14256880, nssv14256879
SamplesNA19239, NA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3215377
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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