A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14103250



Internal ID21292177
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:241282491..241558425hg38UCSC Ensembl
Innerchr2:242221906..242497840hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38275935
hg19275935
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3114910
Supporting Variants
Samplessample83
Known GenesBOK-AS1, FARP2, HDLBP, SEPT2, STK25
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nssv14103250
Frequency
Sample Size467
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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