A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14254507



Internal ID22144489
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:63552413..63566379hg38UCSC Ensembl
Outerchr11:63319885..63333851hg19UCSC Ensembl
Cytoband11q12.3
Allele length
AssemblyAllele length
hg384673
hg194673
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3231841
Supporting Variants
SamplesHG00514
Known GenesHRASLS2, MIR3680-1, MIR3680-2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14254507
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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