A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14093040



Internal ID21279198
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:183387567..183391393hg38UCSC Ensembl
Innerchr1:183356702..183360528hg19UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg383827
hg193827
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3112447
Supporting Variants
Samplessample279
Known GenesNMNAT2
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nssv14093040
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