A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv559688



Internal ID16347097
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:86419589..87480612hg38UCSC Ensembl
Innerchr12:86813367..87874389hg19UCSC Ensembl
Innerchr12:85337498..86398520hg18UCSC Ensembl
Cytoband12q21.32
Allele length
AssemblyAllele length
hg381061024
hg191061023
hg181061023
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2770n54
Supporting Variantsnssv800001
Samples
Known GenesMGAT4C, MIR548AL
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv559688
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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