A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14254178



Internal ID22254791
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:121972928..122025218hg38UCSC Ensembl
Outerchr11:121843636..121895926hg19UCSC Ensembl
Cytoband11q24.1
Allele length
AssemblyAllele length
hg381289
hg191289
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3237290
Supporting Variants
SamplesNA19238
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14254178
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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