A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv564955



Internal ID16005678
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:66636861..66767992hg38UCSC Ensembl
Innerchr14:67103579..67234710hg19UCSC Ensembl
Innerchr14:66173332..66304463hg18UCSC Ensembl
Cytoband14q23.3
Allele length
AssemblyAllele length
hg38131132
hg19131132
hg18131132
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3734n54
Supporting Variantsnssv828620
Samples
Known GenesGPHN
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv564955
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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