A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3115542



Internal ID21298808
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:244862552..244865063hg38UCSC Ensembl
Innerchr1:245025854..245028365hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg382512
hg192512
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv129n145
Supporting Variantsnssv14098248
Samplessample357
Known GenesHNRNPU
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nsv3115542
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