A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14087376



Internal ID21276125
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:145603484..145815626hg38UCSC Ensembl
Innerchr1:145619467..145831579hg19UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg38212143
hg19212113
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3116488
Supporting Variants
Samplessample232
Known GenesCD160, GPR89A, LOC100288142, LOC101929780, NBPF10, PDZK1, RNF115
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nssv14087376
Frequency
Sample Size467
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer