A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv557709



Internal ID15998432
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:20857114..20862826hg38UCSC Ensembl
Innerchr12:21010048..21015760hg19UCSC Ensembl
Innerchr12:20901315..20907027hg18UCSC Ensembl
Cytoband12p12.2
Allele length
AssemblyAllele length
hg385713
hg195713
hg185713
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv789519
Samples
Known GenesSLCO1B3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv557709
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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