A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv542890



Internal ID15511109
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:5854637..5913873hg38UCSC Ensembl
Innerchr11:5875867..5935103hg19UCSC Ensembl
Innerchr11:5832443..5891679hg18UCSC Ensembl
Innerchr11:5832443..5891679hg17UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg3859237
hg1959237
hg1859237
hg1759237
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv467678
Supporting Variants
SamplesHGDP01355
Known GenesOR52E4, OR52E8
MethodSNP array
AnalysisAn HMM examining LogR Ratio and B-allele Frequency was used to classify SNP array data into regions of copy-number 0-3. A combination of manual and automated curation was used on the resulting output to reduce false positives.
PlatformNot reported
Comments
ReferenceItsara_et_al_2009
Pubmed ID19166990
Accession Number(s)nssv542890
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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