A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14090390



Internal ID21279796
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:95115925..95119346hg38UCSC Ensembl
Innerchr1:95581481..95584902hg19UCSC Ensembl
Cytoband1p21.3
Allele length
AssemblyAllele length
hg383422
hg193422
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3112870
Supporting Variants
Samplessample289
Known GenesTMEM56, TMEM56-RWDD3
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nssv14090390
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