A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv513356



Internal ID15852778
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:14323709..14324011hg38UCSC Ensembl
Outerchr12:14476643..14476945hg19UCSC Ensembl
Outerchr12:14367910..14368212hg18UCSC Ensembl
Cytoband12p13.1
Allele length
AssemblyAllele length
hg38826
hg19826
hg18826
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv625749
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)nsv513356
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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