A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3116799



Internal ID21300065
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196765230..196851756hg38UCSC Ensembl
Innerchr1:196734360..196820886hg19UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3886527
hg1986527
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv99n145
Supporting Variantsnssv14093863, nssv14096808
Samplessample306, sample137
Known GenesCFHR1, CFHR3
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nsv3116799
Frequency
Sample Size467
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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