A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3116263



Internal ID21299529
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:25428628..25433523hg38UCSC Ensembl
Innerchr1:25755119..25760014hg19UCSC Ensembl
Cytoband1p36.11
Allele length
AssemblyAllele length
hg384896
hg194896
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv11n145
Supporting Variantsnssv14098045
Samplessample365
Known GenesTMEM57
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nsv3116263
Frequency
Sample Size467
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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