A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14085563



Internal ID21279503
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 StatusS
Merged Variantsnsv3117059
Supporting Variants
Samplessample285
Known GenesGRB10
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nssv14085563
Frequency
Sample Size467
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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