A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv512370



Internal ID6101115
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:94828955..94845257hg19UCSC Ensembl
Outerchr14:93898708..93915010hg18UCSC Ensembl
Cytoband14q32.13
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
Variant TypeCNV Loss
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv624957
Samples1
Known GenesSERPINA1
MethodRead-depth_analysis
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformIllumina Genome Analyzer
Comments
ReferenceArlt et al 2011
Pubmed ID21212237
Accession Number(s)nsv512370
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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