A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1146315



Internal ID18851756
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:20833365..20834466hg38UCSC Ensembl
Outerchr12:20986299..20987400hg19UCSC Ensembl
Cytoband12p12.2
Allele length
AssemblyAllele length
hg381102
hg191102
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3999518
SamplesKWB1
Known GenesSLCO1B3
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1146315
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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