A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3243335



Internal ID22375541
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:29096339..29141124hg38UCSC Ensembl
Outerchr22:29492327..29537112hg19UCSC Ensembl
Cytoband22q12.1
Allele length
AssemblyAllele length
hg381790
hg191790
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14268635, nssv14268637, nssv14268636, nssv14268638
SamplesHG00512, HG00731, HG00733, HG00513
Known GenesKREMEN1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3243335
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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