A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv559578



Internal ID16346987
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:84096546..84299812hg38UCSC Ensembl
Innerchr12:84490325..84693591hg19UCSC Ensembl
Innerchr12:83014456..83217722hg18UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg38203267
hg19203267
hg18203267
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2746n54
Supporting Variantsnssv799377
Samples
Known GenesMIR548T
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv559578
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