A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3236185



Internal ID22373506
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:25803585..25821741hg38UCSC Ensembl
Outerchr13:26377723..26395879hg19UCSC Ensembl
Cytoband13q12.13
Allele length
AssemblyAllele length
hg383848
hg193848
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14256617, nssv14256621, nssv14256619, nssv14256620, nssv14256622, nssv14256618
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, HG00513
Known GenesATP8A2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3236185
Frequency
Sample Size9
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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