A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3225733



Internal ID22368775
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:234609691..234653355hg38UCSC Ensembl
Outerchr2:235518335..235561999hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg381450
hg191450
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5053n152
Supporting Variantsnssv14265612, nssv14265613
SamplesNA19240, HG00733
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3225733
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