A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3115134



Internal ID21298400
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:69238698..69240820hg38UCSC Ensembl
Innerchr12:69632478..69634600hg19UCSC Ensembl
Cytoband12q15
Allele length
AssemblyAllele length
hg382123
hg192123
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv261n145
Supporting Variantsnssv14091687
Samplessample98
Known GenesCPSF6
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nsv3115134
Frequency
Sample Size467
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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