A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1051454



Internal ID18793985
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:20741060..20846701hg38UCSC Ensembl
Innerchr12:20893994..20999635hg19UCSC Ensembl
Innerchr12:20785261..20890902hg18UCSC Ensembl
Cytoband12p12.2
Allele length
AssemblyAllele length
hg38105642
hg19105642
hg18105642
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3710330
Samples
Known GenesSLCO1B3, SLCO1C1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1051454
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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