A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3114125



Internal ID21297391
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:68288629..68293305hg38UCSC Ensembl
Innerchr17:66284770..66289446hg19UCSC Ensembl
Cytoband17q24.2
Allele length
AssemblyAllele length
hg384677
hg194677
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv506n145
Supporting Variantsnssv14097744
Samplessample263
Known GenesARSG, SLC16A6
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nsv3114125
Frequency
Sample Size467
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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