A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14088746



Internal ID21280388
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:51389830..51395913hg38UCSC Ensembl
Innerchr10:53149590..53155673hg19UCSC Ensembl
Cytoband10q21.1
Allele length
AssemblyAllele length
hg386084
hg196084
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3110852
Supporting Variants
Samplessample296
Known GenesPRKG1
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nssv14088746
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