A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv512850



Internal ID15852272
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:42089339..42089886hg38UCSC Ensembl
Outerchr5:42089441..42089988hg19UCSC Ensembl
Outerchr5:42125198..42125745hg18UCSC Ensembl
Cytoband5p13.1
Allele length
AssemblyAllele length
hg38920
hg19920
hg18920
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv625491
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)nsv512850
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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