A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv557718



Internal ID15998441
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:21089365..21152881hg38UCSC Ensembl
Innerchr12:21242299..21305815hg19UCSC Ensembl
Innerchr12:21133566..21197082hg18UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg3863517
hg1963517
hg1863517
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv789538
Samples
Known GenesSLCO1B1, SLCO1B7
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv557718
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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