A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3233984



Internal ID22372897
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:50023800..50029520hg38UCSC Ensembl
Outerchr22:50462229..50467949hg19UCSC Ensembl
Cytoband22q13.33
Allele length
AssemblyAllele length
hg381268
hg191268
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14267811, nssv14267813, nssv14267814, nssv14267810, nssv14267815, nssv14267812
SamplesHG00512, NA19238, NA19240, HG00733, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3233984
Frequency
Sample Size9
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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