A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv513410



Internal ID15852832
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:68866032..68866169hg38UCSC Ensembl
Outerchr14:69332749..69332886hg19UCSC Ensembl
Outerchr14:68402502..68402639hg18UCSC Ensembl
Cytoband14q24.1
Allele length
AssemblyAllele length
hg382040
hg192040
hg182040
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv625808
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)nsv513410
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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