A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3113600



Internal ID21296866
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:54926611..54934788hg38UCSC Ensembl
Innerchr16:54960523..54968700hg19UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg388178
hg198178
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv439n145
Supporting Variantsnssv14097845
Samplessample378
Known GenesCRNDE, IRX5
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nsv3113600
Frequency
Sample Size467
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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