A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv511647



Internal ID15851072
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:35249582..35250059hg38UCSC Ensembl
Outerchr22:35235597..35253605hg38UCSC Ensembl
Innerchr22:35645575..35646052hg19UCSC Ensembl
Outerchr22:35631590..35649598hg19UCSC Ensembl
Innerchr22:33975575..33976052hg18UCSC Ensembl
Outerchr22:33961590..33979598hg18UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg3818009
hg1918009
hg1818009
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv626282
Samples1
Known Genes
MethodSNP array
AnalysisAnalysis of HGMDFN090 by Illumina HumanOmni1 Quad SNP array
PlatformGPL8882
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv511647
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