A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1041345



Internal ID18783876
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:20913221..20926963hg38UCSC Ensembl
Innerchr12:21066155..21079897hg19UCSC Ensembl
Innerchr12:20957422..20971164hg18UCSC Ensembl
Cytoband12p12.2
Allele length
AssemblyAllele length
hg3813743
hg1913743
hg1813743
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3511118
Samples
Known GenesSLCO1B3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1041345
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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