A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3216101



Internal ID22362211
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:33612440..33643799hg38UCSC Ensembl
Outerchr2:33837507..33868866hg19UCSC Ensembl
Cytoband2p22.3
Allele length
AssemblyAllele length
hg381780
hg191780
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14266063, nssv14266064, nssv14266065, nssv14266068, nssv14266066, nssv14266067
SamplesNA19238, NA19239, HG00731, HG00732, NA19240, HG00733
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3216101
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