A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3211844



Internal ID22359272
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:218071922..218090438hg38UCSC Ensembl
Outerchr2:218936645..218955161hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg38881
hg19881
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14265160, nssv14265164, nssv14265161, nssv14265165, nssv14265159, nssv14265163, nssv14265162
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, HG00733, HG00513
Known GenesRUFY4
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3211844
Frequency
Sample Size9
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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