A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3114646



Internal ID21297912
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:75207689..75211086hg38UCSC Ensembl
Innerchr18:72919644..72923041hg19UCSC Ensembl
Cytoband18q22.3
Allele length
AssemblyAllele length
hg383398
hg193398
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14100156
Samplessample289
Known GenesTSHZ1, ZADH2
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nsv3114646
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