A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv513143



Internal ID15505879
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:86055189..86058905hg38UCSC Ensembl
Outerchr4:86976342..86980058hg19UCSC Ensembl
Outerchr4:87195366..87199082hg18UCSC Ensembl
Cytoband4q21.3
Allele length
AssemblyAllele length
hg383717
hg193717
hg183717
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv626637
Samples1
Known GenesMAPK10
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv513143
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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