A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14094699



Internal ID21268666
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196769480..196844127hg38UCSC Ensembl
Innerchr1:196738610..196813257hg19UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3874648
hg1974648
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3115902
Supporting Variants
Samplessample129
Known GenesCFHR1, CFHR3
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nssv14094699
Frequency
Sample Size467
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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