A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3232663



Internal ID22372563
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:17524169..17581613hg38UCSC Ensembl
Outerchr22:18003195..18064379hg19UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg382976
hg192976
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5664n152
Supporting Variantsnssv14269964, nssv14269958, nssv14269960, nssv14269963, nssv14269962, nssv14269961, nssv14269959
SamplesHG00512, NA19239, HG00731, HG00732, NA19240, HG00513, HG00514
Known GenesCECR2, SLC25A18
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3232663
Frequency
Sample Size9
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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