A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3112454



Internal ID21295720
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:39671922..39675346hg38UCSC Ensembl
Innerchr13:40246059..40249483hg19UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg383425
hg193425
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14096967
Samplessample365
Known GenesCOG6
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nsv3112454
Frequency
Sample Size467
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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