A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14254432



Internal ID22144472
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:1128585..1167951hg38UCSC Ensembl
Outerchr11:1122493..1161286hg19UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg3839367
hg1938794
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3222964
Supporting Variants
SamplesHG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14254432
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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