A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3213609



Internal ID22360507
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:113893700..113906639hg38UCSC Ensembl
Outerchr13:114596673..114609612hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg3812940
hg1912940
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14256863, nssv14256860, nssv14256858, nssv14256857, nssv14256859, nssv14256861, nssv14256862
SamplesHG00512, NA19238, NA19239, HG00732, HG00733, HG00513, HG00514
Known GenesLINC00452
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3213609
Frequency
Sample Size9
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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