A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv511478



Internal ID15504217
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:11854200..11854702hg38UCSC Ensembl
Outerchr11:11847002..11871670hg38UCSC Ensembl
Innerchr11:11875747..11876249hg19UCSC Ensembl
Outerchr11:11868549..11893217hg19UCSC Ensembl
Innerchr11:11832323..11832825hg18UCSC Ensembl
Outerchr11:11825125..11849793hg18UCSC Ensembl
Cytoband11p15.3
Allele length
AssemblyAllele length
hg3824669
hg1924669
hg1824669
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv626094
Samples1
Known GenesUSP47
MethodSNP array
AnalysisAnalysis of HGMDFN090 by Illumina HumanOmni1 Quad SNP array
PlatformGPL8882
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv511478
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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