A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3233042



Internal ID22372651
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1596n152
Supporting Variantsnssv14254932, nssv14254936, nssv14254933, nssv14254935, nssv14254934
SamplesNA19238, NA19239, HG00731, NA19240, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3233042
Frequency
Sample Size9
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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