A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14087970



Internal ID21278771
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 StatusS
Merged Variantsnsv3117170
Supporting Variants
Samplessample273
Known GenesPTCH1
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nssv14087970
Frequency
Sample Size467
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer