A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3117474



Internal ID21300740
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:12836415..12839662hg38UCSC Ensembl
Innerchr19:12947229..12950476hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg383248
hg193248
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14101075
Samplessample33
Known GenesMAST1
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nsv3117474
Frequency
Sample Size467
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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