A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv558030



Internal ID15998753
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:30816741..31113353hg38UCSC Ensembl
Innerchr12:30969675..31266287hg19UCSC Ensembl
Innerchr12:30860942..31157554hg18UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg38296613
hg19296613
hg18296613
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv791528
Samples
Known GenesDDX11, DDX11-AS1, TSPAN11
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv558030
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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