A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3213256



Internal ID22360261
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:236354020..236394679hg38UCSC Ensembl
Outerchr1:236517320..236557979hg19UCSC Ensembl
Cytoband1q42.3
Allele length
AssemblyAllele length
hg381880
hg191880
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv616n152
Supporting Variantsnssv14273163, nssv14273164
SamplesHG00732, HG00514
Known GenesEDARADD
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3213256
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