A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3117059



Internal ID21300325
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:50790836..50795484hg38UCSC Ensembl
Innerchr7:50858533..50863181hg19UCSC Ensembl
Cytoband7p12.1
Allele length
AssemblyAllele length
hg384649
hg194649
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1106n145
Supporting Variantsnssv14085563
Samplessample285
Known GenesGRB10
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nsv3117059
Frequency
Sample Size467
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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