A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14097720



Internal ID21277410
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:68289489..68294374hg38UCSC Ensembl
Innerchr17:66285630..66290515hg19UCSC Ensembl
Cytoband17q24.2
Allele length
AssemblyAllele length
hg384886
hg194886
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3116411
Supporting Variants
Samplessample250
Known GenesARSG, SLC16A6
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nssv14097720
Frequency
Sample Size467
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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