A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3224886



Internal ID22368188
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:98601618..98611429hg38UCSC Ensembl
Outerchr13:99253872..99263683hg19UCSC Ensembl
Cytoband13q32.2
Allele length
AssemblyAllele length
hg389812
hg199812
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14256935, nssv14256936
SamplesHG00512, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3224886
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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