A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv512966



Internal ID15852388
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:130897469..130897737hg38UCSC Ensembl
Outerchr8:131909715..131909983hg19UCSC Ensembl
Outerchr8:131978897..131979165hg18UCSC Ensembl
Cytoband8q24.22
Allele length
AssemblyAllele length
hg381211
hg191211
hg181211
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv625619
Samples1
Known GenesADCY8
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv512966
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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