A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1643487



Internal ID15490694
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:55693207..55779616hg38UCSC Ensembl
Innerchr11:55460683..55547092hg19UCSC Ensembl
Innerchr11:55217259..55303668hg18UCSC Ensembl
Innerchr11:55217259..55303668hg17UCSC Ensembl
Cytoband11q11
Allele length
AssemblyAllele length
hg3886410
hg1986410
hg1886410
hg1786410
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv442618
Supporting Variants
SamplesNA19094
Known GenesOR5D13
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)nssv1643487
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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