A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3114389



Internal ID21297655
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196748999..196829244hg38UCSC Ensembl
Innerchr1:196718129..196798374hg19UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3880246
hg1980246
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv98n145
Supporting Variantsnssv14085245
Samplessample222
Known GenesCFHR1, CFHR3
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nsv3114389
Frequency
Sample Size467
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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