A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv512785



Internal ID15505521
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:200773288..200773533hg38UCSC Ensembl
Outerchr2:201638011..201638256hg19UCSC Ensembl
Outerchr2:201346256..201346501hg18UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg381080
hg191080
hg181080
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv625417
Samples1
Known GenesAOX2P
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv512785
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