A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv442217



Internal ID15500936
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:5864479..5914280hg38UCSC Ensembl
Innerchr11:5885709..5935510hg19UCSC Ensembl
Innerchr11:5842285..5892086hg18UCSC Ensembl
Innerchr11:5842285..5892086hg17UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg3849802
hg1949802
hg1849802
hg1749802
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1659239, nssv1659237, nssv1659242, nssv1659243, nssv1659238, nssv1659240, nssv1659244, nssv1659241
SamplesNA18980, NA18571, NA18611, NA18605, NA18529, NA18537, NA18532, NA18994
Known GenesOR52E4
MethodSNP array
AnalysisWe used two computational approaches to identify CNVs: the hidden Markov model Birdseye, and an approach based on correlation between nearby probes across a population sample. To maximize the quality of reported findings, we ran duplicate experiments in independent labs, and report the CNVs that were observed in both experiments, in the same samples and at essentially identical genomic locations.
Platform[GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array
Comments
ReferenceMcCarroll_et_al_2008
Pubmed ID18776908
Accession Number(s)nsv442217
Frequency
Sample Size270
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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