A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv469159



Internal ID6030725
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:21124371..21404832hg19UCSC Ensembl
Innerchr12:21015638..21296099hg18UCSC Ensembl
Innerchr12:21015638..21296099hg17UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
hg17n/a
Variant TypeCNV Loss
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv544124
Samples1780862306_A
Known GenesSLCO1B1, SLCO1B7
MethodSNP_genotyping_analysis
AnalysisAn HMM examining LogR Ratio and B-allele Frequency was used to classify SNP array data into regions of copy-number 0-3. A combination of manual and automated curation was used on the resulting output to reduce false positives.
PlatformNot Provided
Comments
ReferenceItsara et al 2009
Pubmed ID19166990
Accession Number(s)nsv469159
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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