A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1659404



Internal ID15467576
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:107783017..107800462hg38UCSC Ensembl
Innerchr11:107653743..107671188hg19UCSC Ensembl
Innerchr11:107158953..107176398hg18UCSC Ensembl
Innerchr11:107158953..107176398hg17UCSC Ensembl
Cytoband11q22.3
Allele length
AssemblyAllele length
hg3817446
hg1917446
hg1817446
hg1717446
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv442244
Supporting Variants
SamplesNA12760
Known GenesSLC35F2
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)nssv1659404
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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