A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv557710



Internal ID15998433
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:20858546..21251898hg38UCSC Ensembl
Innerchr12:21011480..21404832hg19UCSC Ensembl
Innerchr12:20902747..21296099hg18UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg38393353
hg19393353
hg18393353
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2401n54
Supporting Variantsnssv789520
Samples
Known GenesSLCO1B1, SLCO1B3, SLCO1B7
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv557710
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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