A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv513366



Internal ID15506102
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:111325496..111326765hg38UCSC Ensembl
Outerchr12:111763300..111764569hg19UCSC Ensembl
Outerchr12:110247683..110248952hg18UCSC Ensembl
Cytoband12q24.12
Allele length
AssemblyAllele length
hg38880
hg19880
hg18880
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv625759
Samples1
Known GenesCUX2
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv513366
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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