A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1045460



Internal ID18787991
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:20854798..21195313hg38UCSC Ensembl
Innerchr12:21007732..21348247hg19UCSC Ensembl
Innerchr12:20898999..21239514hg18UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg38340516
hg19340516
hg18340516
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1403n100
Supporting Variantsnssv3508257
Samples
Known GenesSLCO1B1, SLCO1B3, SLCO1B7
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1045460
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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