A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv624814



Internal ID15848350
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:121480887..121484209hg38UCSC Ensembl
Outerchr11:121351596..121354918hg19UCSC Ensembl
Outerchr11:120856806..120860128hg18UCSC Ensembl
Cytoband11q24.1
Allele length
AssemblyAllele length
hg383323
hg193323
hg183323
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv512242
Supporting Variants
Samples1
Known GenesSORL1
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nssv624814
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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