A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv789514



Internal ID15736784
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:20846411..20864102hg38UCSC Ensembl
Innerchr12:20999345..21017036hg19UCSC Ensembl
Innerchr12:20890612..20908303hg18UCSC Ensembl
Cytoband12p12.2
Allele length
AssemblyAllele length
hg3817692
hg1917692
hg1817692
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv557705
Supporting Variants
Samples
Known GenesSLCO1B3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv789514
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer