A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14254936



Internal ID22309295
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:119506215..119511402hg38UCSC Ensembl
Outerchr11:119376926..119382113hg19UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg38918
hg19918
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3233042
Supporting Variants
SamplesNA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14254936
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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