A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3112552



Internal ID21295818
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196854165..196949077hg38UCSC Ensembl
Innerchr1:196823295..196918207hg19UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3894913
hg1994913
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv103n145
Supporting Variantsnssv14105754
Samplessample54
Known GenesCFHR2, CFHR4
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nsv3112552
Frequency
Sample Size467
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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