A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv512616



Internal ID15852041
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:43395821..43397357hg38UCSC Ensembl
Outerchr20:42024461..42025997hg19UCSC Ensembl
Outerchr20:41457875..41459411hg18UCSC Ensembl
Cytoband20q13.11
Allele length
AssemblyAllele length
hg381537
hg191537
hg181537
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv625229
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)nsv512616
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer