A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3117796



Internal ID21301062
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196758680..196830125hg38UCSC Ensembl
Innerchr1:196727810..196799255hg19UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3871446
hg1971446
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv98n145
Supporting Variantsnssv14094183, nssv14106771
Samplessample322, sample65
Known GenesCFHR1, CFHR3
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nsv3117796
Frequency
Sample Size467
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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