A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv513141



Internal ID15852563
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:79966511..79972934hg38UCSC Ensembl
Outerchr4:80887665..80894088hg19UCSC Ensembl
Outerchr4:81106689..81113112hg18UCSC Ensembl
Cytoband4q21.21
Allele length
AssemblyAllele length
hg386424
hg196424
hg186424
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv626635
Samples1
Known GenesANTXR2
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv513141
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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