A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv513066



Internal ID15852488
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:111524173..111530212hg38UCSC Ensembl
Outerchr3:111243020..111249059hg19UCSC Ensembl
Outerchr3:112725710..112731749hg18UCSC Ensembl
Cytoband3q13.13
Allele length
AssemblyAllele length
hg386040
hg196040
hg186040
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv626551
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)nsv513066
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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