A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3243999



Internal ID22375737
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:44981646..44989989hg38UCSC Ensembl
Outerchr22:45377526..45385869hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg38862
hg19862
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14268223, nssv14268222, nssv14268219, nssv14268221, nssv14268224, nssv14268220
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, HG00513
Known GenesPHF21B
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3243999
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