A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv513318



Internal ID15852740
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:58404322..58404368hg38UCSC Ensembl
Outerchr11:58171795..58171841hg19UCSC Ensembl
Outerchr11:57928371..57928417hg18UCSC Ensembl
Cytoband11q12.1
Allele length
AssemblyAllele length
hg381414
hg191414
hg181414
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv625705
Samples1
Known Genes
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv513318
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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