A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14105754



Internal ID21290024
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 StatusS
Merged Variantsnsv3112552
Supporting Variants
Samplessample54
Known GenesCFHR2, CFHR4
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nssv14105754
Frequency
Sample Size467
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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