A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3117516



Internal ID21300782
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:46771135..46827045hg38UCSC Ensembl
Innerchr19:47274392..47330302hg19UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg3855911
hg1955911
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14101340
Samplessample296
Known GenesSLC1A5
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nsv3117516
Frequency
Sample Size467
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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