A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3116730



Internal ID21299996
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:202481250..202538954hg38UCSC Ensembl
Innerchr1:202450378..202508082hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg3857705
hg1957705
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14090524
Samplessample10
Known GenesPPP1R12B
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nsv3116730
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