A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv585393



Internal ID16372802
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:8199431..8272638hg38UCSC Ensembl
Innerchr20:8180078..8253285hg19UCSC Ensembl
Innerchr20:8128078..8201285hg18UCSC Ensembl
Cytoband20p12.3
Allele length
AssemblyAllele length
hg3873208
hg1973208
hg1873208
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv937923
Samples
Known GenesPLCB1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv585393
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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