A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv558036



Internal ID16345445
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:31061245..31253973hg38UCSC Ensembl
Innerchr12:31214179..31406907hg19UCSC Ensembl
Innerchr12:31105446..31298174hg18UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg38192729
hg19192729
hg18192729
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2463n54
Supporting Variantsnssv1175834
SamplesHGDP00922
Known GenesDDX11, DDX11-AS1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv558036
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