A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3225854



Internal ID22368860
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:125889619..125901237hg38UCSC Ensembl
Outerchr2:126647196..126658814hg19UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg38923
hg19923
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4789n152
Supporting Variantsnssv14264987, nssv14264986
SamplesNA19238, HG00732
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3225854
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