A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14093775



Internal ID21284500
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:69238548..69240998hg38UCSC Ensembl
Innerchr12:69632328..69634778hg19UCSC Ensembl
Cytoband12q15
Allele length
AssemblyAllele length
hg382451
hg192451
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3113184
Supporting Variants
Samplessample361
Known GenesCPSF6
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nssv14093775
Frequency
Sample Size467
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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