A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3230920



Internal ID22372070
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:120328314..120330428hg38UCSC Ensembl
Outerchr11:120199023..120201137hg19UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg38982
hg19982
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14254147, nssv14254146, nssv14254150, nssv14254148, nssv14254152, nssv14254149, nssv14254153, nssv14254154, nssv14254151
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesTMEM136
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3230920
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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