A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv512375



Internal ID15505114
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:101781688..101783352hg38UCSC Ensembl
Outerchr14:102248025..102249689hg19UCSC Ensembl
Outerchr14:101317778..101319442hg18UCSC Ensembl
Cytoband14q32.31
Allele length
AssemblyAllele length
hg381665
hg191665
hg181665
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv624962
Samples1
Known GenesPPP2R5C
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv512375
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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