A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv557254



Internal ID15997977
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:6339949..6342424hg38UCSC Ensembl
Innerchr12:6449115..6451590hg19UCSC Ensembl
Innerchr12:6319376..6321851hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg382476
hg192476
hg182476
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv787250
Samples
Known GenesTNFRSF1A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv557254
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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