A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv512845



Internal ID15505581
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:318792..318949hg38UCSC Ensembl
Outerchr5:318907..319064hg19UCSC Ensembl
Outerchr5:371907..372064hg18UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg38933
hg19933
hg18933
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv625483
Samples1
Known GenesAHRR
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv512845
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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