A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14253072



Internal ID22183581
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:87951212..88028900hg38UCSC Ensembl
Cytoband
Allele length
AssemblyAllele length
hg3877689
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3230221
Supporting Variants
SamplesHG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14253072
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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