A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv558038



Internal ID15998761
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:31094164..31257887hg38UCSC Ensembl
Innerchr12:31247098..31410821hg19UCSC Ensembl
Innerchr12:31138365..31302088hg18UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg38163724
hg19163724
hg18163724
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2464n54
Supporting Variantsnssv791533
Samples
Known GenesDDX11
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv558038
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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