A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3117170



Internal ID21300436
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:95503288..95512560hg38UCSC Ensembl
Innerchr9:98265570..98274842hg19UCSC Ensembl
Cytoband9q22.32
Allele length
AssemblyAllele length
hg389273
hg199273
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1245n145
Supporting Variantsnssv14087970
Samplessample273
Known GenesPTCH1
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nsv3117170
Frequency
Sample Size467
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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