A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1052587



Internal ID18795118
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:20996197..21267778hg38UCSC Ensembl
Innerchr12:21149131..21420712hg19UCSC Ensembl
Innerchr12:21040398..21311979hg18UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg38271582
hg19271582
hg18271582
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1404n100
Supporting Variantsnssv3515040
Samples
Known GenesSLCO1A2, SLCO1B1, SLCO1B7
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1052587
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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