A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv557736



Internal ID15998459
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:21294002..21300532hg38UCSC Ensembl
Innerchr12:21446936..21453466hg19UCSC Ensembl
Innerchr12:21338203..21344733hg18UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg386531
hg196531
hg186531
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv789556
Samples
Known GenesSLCO1A2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv557736
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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