A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv789554



Internal ID15736824
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:21268321..21272579hg38UCSC Ensembl
Innerchr12:21421255..21425513hg19UCSC Ensembl
Innerchr12:21312522..21316780hg18UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg384259
hg194259
hg184259
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv557734
Supporting Variants
Samples
Known GenesSLCO1A2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv789554
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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