A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1230n152



Internal ID22816933
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:1669129..1685197hg38UCSC Ensembl
chr11:1690359..1706427hg19UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg3816069
hg1916069
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3240973, nsv3240925
SamplesNA19238, HG00731, HG00732, HG00513
Known GenesFAM99B, MOB2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv1230n152
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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