A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv789521



Internal ID15736791
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:20864102..20883168hg38UCSC Ensembl
Innerchr12:21017036..21036102hg19UCSC Ensembl
Innerchr12:20908303..20927369hg18UCSC Ensembl
Cytoband12p12.2
Allele length
AssemblyAllele length
hg3819067
hg1919067
hg1819067
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv557711
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)nssv789521
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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