A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv513057



Internal ID15852479
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:89460257..89466917hg38UCSC Ensembl
Outerchr3:89509407..89516067hg19UCSC Ensembl
Outerchr3:89592097..89598757hg18UCSC Ensembl
Cytoband3p11.1
Allele length
AssemblyAllele length
hg386661
hg196661
hg186661
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv626541
Samples1
Known GenesEPHA3
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv513057
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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