A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14254019



Internal ID22272890
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:18376602..18382338hg38UCSC Ensembl
Outerchr11:18398149..18403885hg19UCSC Ensembl
Cytoband11p15.1
Allele length
AssemblyAllele length
hg382539
hg192539
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3240503
Supporting Variants
SamplesNA19239
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14254019
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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