A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3241506



Internal ID22335952
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:43400336..43438054hg38UCSC Ensembl
Outerchr22:43796342..43833973hg19UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg381049
hg191049
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14268211, nssv14268210, nssv14268209, nssv14268208
SamplesNA19238, HG00731, HG00732, HG00513
Known GenesMPPED1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3241506
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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