A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv559959



Internal ID16000682
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:99656351..99703568hg38UCSC Ensembl
Innerchr12:100050129..100097346hg19UCSC Ensembl
Innerchr12:98574260..98621477hg18UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg3847218
hg1947218
hg1847218
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2824n54
Supporting Variantsnssv801474, nssv801475
Samples
Known GenesANKS1B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv559959
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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