A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv585390



Internal ID16372799
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:8115483..8595024hg38UCSC Ensembl
Innerchr20:8096130..8575671hg19UCSC Ensembl
Innerchr20:8044130..8523671hg18UCSC Ensembl
Cytoband20p12.3
Allele length
AssemblyAllele length
hg38479542
hg19479542
hg18479542
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7457n54
Supporting Variantsnssv1151199
SamplesNINDS_129
Known GenesPLCB1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv585390
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