A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv557714



Internal ID15998437
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:20869933..20883599hg38UCSC Ensembl
Innerchr12:21022867..21036533hg19UCSC Ensembl
Innerchr12:20914134..20927800hg18UCSC Ensembl
Cytoband12p12.2
Allele length
AssemblyAllele length
hg3813667
hg1913667
hg1813667
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2403n54
Supporting Variantsnssv789529, nssv789530, nssv789533, nssv789532, nssv789531
Samples
Known GenesSLCO1B3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv557714
Frequency
Sample Size17421
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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