A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14094183



Internal ID21282177
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 StatusS
Merged Variantsnsv3117796
Supporting Variants
Samplessample322
Known GenesCFHR1, CFHR3
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nssv14094183
Frequency
Sample Size467
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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