A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv564893



Internal ID16005616
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:63060213..63329404hg38UCSC Ensembl
Innerchr14:63526931..63796122hg19UCSC Ensembl
Innerchr14:62596684..62865875hg18UCSC Ensembl
Cytoband14q23.2
Allele length
AssemblyAllele length
hg38269192
hg19269192
hg18269192
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv828216
Samples
Known GenesGPHB5, RHOJ
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv564893
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