A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3114701



Internal ID21297967
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:95839013..95843328hg38UCSC Ensembl
Innerchr12:96232791..96237106hg19UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg384316
hg194316
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv274n145
Supporting Variantsnssv14090378, nssv14092606
Samplessample15, sample302
Known Genes
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nsv3114701
Frequency
Sample Size467
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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