A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv561133



Internal ID16001856
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:132782284..132860654hg38UCSC Ensembl
Innerchr12:133358870..133437240hg19UCSC Ensembl
Innerchr12:131868943..131947313hg18UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg3878371
hg1978371
hg1878371
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv805951
Samples
Known GenesCHFR, GOLGA3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv561133
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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