A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14254502



Internal ID22254906
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:63415009..63506568hg38UCSC Ensembl
Outerchr11:63182481..63274040hg19UCSC Ensembl
Cytoband11q12.3
Allele length
AssemblyAllele length
hg3816135
hg1916135
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3247579
Supporting Variants
SamplesNA19238
Known GenesHRASLS5, LGALS12, MIR3680-1, MIR3680-2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14254502
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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