A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14254470



Internal ID22144479
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:55086811..55286227hg38UCSC Ensembl
Outerchr11:54854287..55053703hg19UCSC Ensembl
Cytoband11q11
Allele length
AssemblyAllele length
hg38199417
hg19199417
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3221307
Supporting Variants
SamplesHG00514
Known GenesTRIM48
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14254470
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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