A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv513750



Internal ID6101519
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:94832721..94846325hg19UCSC Ensembl
Outerchr14:93902474..93916078hg18UCSC Ensembl
Cytoband14q32.13
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
Variant TypeCNV Insertion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv627002
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)nsv513750
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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