A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv513133



Internal ID15852555
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:59078487..59086383hg38UCSC Ensembl
Outerchr4:59944205..59952101hg19UCSC Ensembl
Outerchr4:59626800..59634696hg18UCSC Ensembl
Cytoband4q13.1
Allele length
AssemblyAllele length
hg387897
hg197897
hg187897
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv626626
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)nsv513133
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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