A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3112990



Internal ID21296256
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:12882279..12885902hg38UCSC Ensembl
Innerchr18:12882278..12885901hg19UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg383624
hg193624
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv513n145
Supporting Variantsnssv14100247
Samplessample348
Known GenesPTPN2
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nsv3112990
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