A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14091304



Internal ID21274529
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:69238548..69241395hg38UCSC Ensembl
Innerchr12:69632328..69635175hg19UCSC Ensembl
Cytoband12q15
Allele length
AssemblyAllele length
hg382848
hg192848
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3111198
Supporting Variants
Samplessample208
Known GenesCPSF6
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nssv14091304
Frequency
Sample Size467
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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