A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3112420



Internal ID21295686
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196748999..196827269hg38UCSC Ensembl
Innerchr1:196718129..196796399hg19UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3878271
hg1978271
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv98n145
Supporting Variantsnssv14088369, nssv14083262
Samplessample187, sample236
Known GenesCFHR1, CFHR3
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nsv3112420
Frequency
Sample Size467
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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