A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14255757



Internal ID22131516
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:118680562..118699775hg38UCSC Ensembl
Outerchr11:118551271..118570484hg19UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg38700
hg19700
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3242102
Supporting Variants
SamplesHG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14255757
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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