A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3240973



Internal ID22374835
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:1669129..1685197hg38UCSC Ensembl
Outerchr11:1690359..1706427hg19UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg38401
hg19401
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1230n152
Supporting Variantsnssv14254269
SamplesNA19238
Known GenesFAM99B, MOB2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3240973
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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