A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3116112



Internal ID21299378
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:45732406..45737748hg38UCSC Ensembl
Innerchr12:46126189..46131531hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg385343
hg195343
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14093761
Samplessample359
Known GenesARID2
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nsv3116112
Frequency
Sample Size467
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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