A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv558033



Internal ID16345442
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:31057180..31253973hg38UCSC Ensembl
Innerchr12:31210114..31406907hg19UCSC Ensembl
Innerchr12:31101381..31298174hg18UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg38196794
hg19196794
hg18196794
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2463n54
Supporting Variantsnssv1175828, nssv791530, nssv1175829, nssv1175830, nssv791529, nssv1175832, nssv1175831
Samples1782681287_A, HGDP00088, HGDP00450, 1782681093_A, HGDP01386
Known GenesDDX11, DDX11-AS1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv558033
Frequency
Sample Size17421
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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