A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv512291



Internal ID15851716
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:104975218..104981566hg38UCSC Ensembl
Outerchr12:105368996..105375344hg19UCSC Ensembl
Outerchr12:103893126..103899474hg18UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg386349
hg196349
hg186349
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv14n50
Supporting Variantsnssv624869
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)nsv512291
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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