A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3116431



Internal ID21299697
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:88055282..88067530hg38UCSC Ensembl
Innerchr12:88449059..88461307hg19UCSC Ensembl
Cytoband12q21.32
Allele length
AssemblyAllele length
hg3812249
hg1912249
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14092538
Samplessample278
Known GenesCEP290
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nsv3116431
Frequency
Sample Size467
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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