A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3116860



Internal ID21300126
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:179023397..179030227hg38UCSC Ensembl
Innerchr1:178992532..178999362hg19UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg386831
hg196831
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14094365
Samplessample309
Known GenesFAM20B
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nsv3116860
Frequency
Sample Size467
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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