A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3111693



Internal ID21294959
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:57795634..57863634hg38UCSC Ensembl
Innerchr19:58307002..58375002hg19UCSC Ensembl
Cytoband19q13.43
Allele length
AssemblyAllele length
hg3868001
hg1968001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14100605
Samplessample253
Known GenesFKBP1AP1, ZNF552, ZNF587, ZNF587B
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nsv3111693
Frequency
Sample Size467
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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