A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv624813



Internal ID15501663
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:114552961..114561276hg38UCSC Ensembl
Outerchr11:114423683..114431998hg19UCSC Ensembl
Outerchr11:113928893..113937208hg18UCSC Ensembl
Cytoband11q23.2
Allele length
AssemblyAllele length
hg388316
hg198316
hg188316
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv512241
Supporting Variants
Samples1
Known GenesNXPE1
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nssv624813
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