A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14255100



Internal ID22298283
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:69108248..69126750hg38UCSC Ensembl
Outerchr11:68875716..68894218hg19UCSC Ensembl
Cytoband11q13.3
Allele length
AssemblyAllele length
hg381215
hg191215
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3239850
Supporting Variants
SamplesNA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14255100
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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