A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3229350



Internal ID22371227
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:72262197..72277798hg38UCSC Ensembl
Outerchr13:72836335..72851936hg19UCSC Ensembl
Cytoband13q21.33
Allele length
AssemblyAllele length
hg3815602
hg1915602
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14256902, nssv14256899, nssv14256903, nssv14256901, nssv14256898, nssv14256900
SamplesHG00512, NA19239, HG00731, HG00732, HG00733, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3229350
Frequency
Sample Size9
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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