A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv559438



Internal ID16000161
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:78474177..79319654hg38UCSC Ensembl
Innerchr12:78867957..79713434hg19UCSC Ensembl
Innerchr12:77392088..78237565hg18UCSC Ensembl
Cytoband12q21.2
Allele length
AssemblyAllele length
hg38845478
hg19845478
hg18845478
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1175884
SamplesHGDP00466
Known GenesSYT1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv559438
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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