A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv557666



Internal ID16345075
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:18072810..18163015hg38UCSC Ensembl
Innerchr12:18225744..18315949hg19UCSC Ensembl
Innerchr12:18117011..18207216hg18UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg3890206
hg1990206
hg1890206
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv789456
Samples
Known GenesRERGL
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv557666
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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