A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3242900



Internal ID22375418
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:17524169..17570068hg38UCSC Ensembl
Outerchr22:18003195..18050133hg19UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg381489
hg191489
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5664n152
Supporting Variantsnssv14270050
SamplesHG00512
Known GenesCECR2, SLC25A18
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3242900
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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