A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv558035



Internal ID15998758
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:31057180..31257887hg38UCSC Ensembl
Innerchr12:31210114..31410821hg19UCSC Ensembl
Innerchr12:31101381..31302088hg18UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg38200708
hg19200708
hg18200708
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2463n54
Supporting Variantsnssv791531
Samples
Known GenesDDX11, DDX11-AS1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv558035
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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