A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv467701



Internal ID15181080
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:6757840..6871635hg38UCSC Ensembl
Innerchr11:6779071..6892866hg19UCSC Ensembl
Innerchr11:6735647..6849442hg18UCSC Ensembl
Innerchr11:6735647..6849442hg17UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg38113796
hg19113796
hg18113796
hg17113796
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv542910
SamplesHGDP00807
Known GenesOR10A2, OR10A5, OR2AG1, OR2AG2, OR6A2
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)nsv467701
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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