A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv442218



Internal ID15500937
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:9413673..9419862hg38UCSC Ensembl
Innerchr11:9435220..9441409hg19UCSC Ensembl
Innerchr11:9391796..9397985hg18UCSC Ensembl
Innerchr11:9391796..9397985hg17UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg386190
hg196190
hg186190
hg176190
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1659246, nssv1659245, nssv1659247
SamplesNA18855, NA18857, NA18505
Known GenesIPO7
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)nsv442218
Frequency
Sample Size270
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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