A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14254411



Internal ID22299900
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:9908405..9920799hg38UCSC Ensembl
Outerchr11:9929952..9942346hg19UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg3812395
hg1912395
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3229304
Supporting Variants
SamplesNA19240
Known GenesSBF2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14254411
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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