A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3116854



Internal ID21300120
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:4803231..4809314hg38UCSC Ensembl
Innerchr17:4706526..4712609hg19UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg386084
hg196084
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14097630
Samplessample208
Known GenesPLD2
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nsv3116854
Frequency
Sample Size467
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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