A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3117547



Internal ID21300813
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:15467316..15471549hg38UCSC Ensembl
Innerchr6:15467547..15471780hg19UCSC Ensembl
Cytoband6p22.3
Allele length
AssemblyAllele length
hg384234
hg194234
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1012n145
Supporting Variantsnssv14084471
Samplessample96
Known GenesJARID2
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nsv3117547
Frequency
Sample Size467
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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