A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3248380



Internal ID22376968
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:19204358..19216543hg38UCSC Ensembl
Outerchr19:19315167..19327352hg19UCSC Ensembl
Cytoband19p13.11
Allele length
AssemblyAllele length
hg38936
hg19936
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14263167, nssv14263168, nssv14263169, nssv14263170
SamplesHG00512, NA19238, NA19239, HG00732
Known GenesNCAN
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3248380
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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