A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14254965



Internal ID22187954
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:73847677..73850909hg38UCSC Ensembl
Outerchr11:73558722..73561954hg19UCSC Ensembl
Cytoband11q13.4
Allele length
AssemblyAllele length
hg381110
hg191110
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3239646
Supporting Variants
SamplesHG00731
Known GenesMRPL48
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14254965
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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