A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3113317



Internal ID21296583
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:14512089..14583844hg38UCSC Ensembl
Innerchr20:14492735..14564490hg19UCSC Ensembl
Cytoband20p12.1
Allele length
AssemblyAllele length
hg3871756
hg1971756
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14100765
Samplessample375
Known GenesMACROD2, MACROD2-IT1
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nsv3113317
Frequency
Sample Size467
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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