A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3111480



Internal ID21294746
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:58589012..58591700hg38UCSC Ensembl
Innerchr12:58982794..58985482hg19UCSC Ensembl
Cytoband12q14.1
Allele length
AssemblyAllele length
hg382689
hg192689
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14091319
Samplessample213
Known Genes
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nsv3111480
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