A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv512361



Internal ID15851786
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:55284090..55285326hg38UCSC Ensembl
Outerchr14:55750808..55752044hg19UCSC Ensembl
Outerchr14:54820561..54821797hg18UCSC Ensembl
Cytoband14q22.3
Allele length
AssemblyAllele length
hg381237
hg191237
hg181237
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv624947
Samples1
Known GenesFBXO34
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv512361
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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