A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3214065



Internal ID22360825
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:236354020..236385429hg38UCSC Ensembl
Outerchr1:236517320..236548729hg19UCSC Ensembl
Cytoband1q42.3
Allele length
AssemblyAllele length
hg381219
hg191219
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv616n152
Supporting Variantsnssv14272530, nssv14272529
SamplesHG00512, HG00731
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3214065
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