A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14254448



Internal ID22144475
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:102877992..102885508hg38UCSC Ensembl
Outerchr11:102748722..102756238hg19UCSC Ensembl
Cytoband11q22.2
Allele length
AssemblyAllele length
hg387517
hg197517
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3213361
Supporting Variants
SamplesHG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14254448
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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