A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3233810



Internal ID22372851
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:79138240..79151224hg38UCSC Ensembl
Outerchr11:78849285..78862269hg19UCSC Ensembl
Cytoband11q14.1
Allele length
AssemblyAllele length
hg38794
hg19794
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14255155, nssv14254301, nssv14254300, nssv14254302, nssv14254303, nssv14255154
SamplesNA19238, NA19239, HG00731, HG00732, HG00513, HG00514
Known GenesTENM4
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3233810
Frequency
Sample Size9
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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