A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv512058



Internal ID15851483
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:107367555..107369094hg38UCSC Ensembl
Outerchr8:108379783..108381322hg19UCSC Ensembl
Outerchr8:108448959..108450498hg18UCSC Ensembl
Cytoband8q23.1
Allele length
AssemblyAllele length
hg381540
hg191540
hg181540
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv624610
Samples1
Known GenesANGPT1
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv512058
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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