A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3117930



Internal ID21301196
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:81912144..81920136hg38UCSC Ensembl
Innerchr17:79870020..79878012hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg387993
hg197993
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14098886
Samplessample139
Known GenesMAFG, SIRT7
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nsv3117930
Frequency
Sample Size467
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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