A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv800030



Internal ID15747300
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:89708524..89709389hg38UCSC Ensembl
Innerchr12:90102301..90103166hg19UCSC Ensembl
Innerchr12:88626432..88627297hg18UCSC Ensembl
Cytoband12q21.33
Allele length
AssemblyAllele length
hg38866
hg19866
hg18866
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv559711
Supporting Variants
Samples
Known GenesLINC00936
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv800030
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