A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14097744



Internal ID21278118
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 StatusS
Merged Variantsnsv3114125
Supporting Variants
Samplessample263
Known GenesARSG, SLC16A6
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nssv14097744
Frequency
Sample Size467
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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