A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv565559



Internal ID16352968
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:93115086..93116297hg38UCSC Ensembl
Innerchr14:93581431..93582642hg19UCSC Ensembl
Innerchr14:92651184..92652395hg18UCSC Ensembl
Cytoband14q32.12
Allele length
AssemblyAllele length
hg381212
hg191212
hg181212
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3848n54
Supporting Variantsnssv832384, nssv832385
Samples
Known GenesITPK1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv565559
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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