A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv513553



Internal ID15852975
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:61152786..61153565hg38UCSC Ensembl
Outerchr20:59727842..59728621hg19UCSC Ensembl
Outerchr20:59161237..59162016hg18UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg381503
hg191503
hg181503
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv625917
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)nsv513553
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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