A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3111542



Internal ID21294808
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:4402065..4523932hg38UCSC Ensembl
Innerchr17:4305360..4427227hg19UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg38121868
hg19121868
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14098955
Samplessample175
Known GenesSPNS2, SPNS3
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nsv3111542
Frequency
Sample Size467
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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