A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv513546



Internal ID15852968
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:39089265..39089459hg38UCSC Ensembl
Outerchr20:37717908..37718102hg19UCSC Ensembl
Outerchr20:37151322..37151516hg18UCSC Ensembl
Cytoband20q12
Allele length
AssemblyAllele length
hg381426
hg191426
hg181426
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv625961
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)nsv513546
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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