A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv585164



Internal ID16372573
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:82603..144480hg38UCSC Ensembl
Innerchr20:63244..125121hg19UCSC Ensembl
Innerchr20:11244..73121hg18UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg3861878
hg1961878
hg1861878
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv935228
Samples
Known GenesDEFB125, DEFB126
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv585164
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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