A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3249608



Internal ID22377322
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:32135417..32194416hg38UCSC Ensembl
Outerchr22:32531404..32590403hg19UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg382081
hg192081
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14270000, nssv14270001
SamplesNA19239, HG00732
Known GenesC22orf42, RFPL2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3249608
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer