A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3234227



Internal ID22372968
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:18105883..18161374hg38UCSC Ensembl
Outerchr22:18588649..18644141hg19UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg384266
hg194266
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14269178, nssv14269179
SamplesHG00731, HG00733
Known GenesTUBA8, USP18
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3234227
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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