A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv442244



Internal ID15500963
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 Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1659404, nssv1659403, nssv1659405
SamplesNA18603, NA12760, NA12752
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)nsv442244
Frequency
Sample Size270
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer