A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3245413



Internal ID22376136
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:29112995..29137451hg38UCSC Ensembl
Outerchr22:29508983..29533439hg19UCSC Ensembl
Cytoband22q12.1
Allele length
AssemblyAllele length
hg382902
hg192902
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14268572, nssv14268575, nssv14268571, nssv14268576, nssv14268570, nssv14268573, nssv14268574
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00513
Known GenesKREMEN1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3245413
Frequency
Sample Size9
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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