A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3248767



Internal ID22377078
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:11921380..11938638hg38UCSC Ensembl
Outerchr11:11942927..11960185hg19UCSC Ensembl
Cytoband11p15.3
Allele length
AssemblyAllele length
hg382768
hg192768
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14254996
SamplesHG00733
Known GenesUSP47
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3248767
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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