A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3230859



Internal ID22372050
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:21044311..21108661hg38UCSC Ensembl
Outerchr21:22416629..22480979hg19UCSC Ensembl
Cytoband21q21.1
Allele length
AssemblyAllele length
hg381387
hg191387
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14267685, nssv14267686, nssv14267683, nssv14267684
SamplesHG00512, HG00731, HG00733, HG00513
Known GenesNCAM2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3230859
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer