A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1175440



Internal ID15508059
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:20971437..21251898hg38UCSC Ensembl
Innerchr12:21124371..21404832hg19UCSC Ensembl
Innerchr12:21015638..21296099hg18UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg38280462
hg19280462
hg18280462
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv557717
Supporting Variants
Samples1780862306_A
Known GenesSLCO1B1, SLCO1B7
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1175440
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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