A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv469159



Internal ID8496206
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:20971437..21251898hg38UCSC Ensembl
Innerchr12:21124371..21404832hg19UCSC Ensembl
Innerchr12:21015638..21296099hg18UCSC Ensembl
Innerchr12:21015638..21296099hg17UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg38280462
hg19280462
hg18280462
hg17280462
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv544124
Samples1780862306_A
Known GenesSLCO1B1, SLCO1B7
MethodSNP array
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 reported
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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