A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3234492



Internal ID22373047
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:11271388..11288530hg38UCSC Ensembl
Outerchr10:11313351..11330493hg19UCSC Ensembl
Cytoband10p14
Allele length
AssemblyAllele length
hg381315
hg191315
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14282761, nssv14282765, nssv14282758, nssv14282757, nssv14282764, nssv14282759, nssv14282762, nssv14282760, nssv14282763
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesCELF2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3234492
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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