A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3111170



Internal ID21294436
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196827261..196926860hg38UCSC Ensembl
Innerchr1:196796391..196895990hg19UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3899600
hg1999600
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv103n145
Supporting Variantsnssv14098989
Samplessample400
Known GenesCFHR1, CFHR4
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nsv3111170
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