A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14094565



Internal ID21281444
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:226404441..226413605hg38UCSC Ensembl
Innerchr1:226592142..226601306hg19UCSC Ensembl
Cytoband1q42.12
Allele length
AssemblyAllele length
hg389165
hg199165
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3110149
Supporting Variants
Samplessample312
Known GenesPARP1
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nssv14094565
Frequency
Sample Size467
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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